Canonical Allele Identifier: CA7900495
Community Standard Title: NM_000246.4(CIITA):c.2816+14C>T
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10909201C>T , CM000678.2:g.10909201C>T GRCh38
NC_000016.9:g.11003058C>T , CM000678.1:g.11003058C>T GRCh37
NC_000016.8:g.10910559C>T NCBI36
NG_009628.1:g.37004C>T , LRG_49:g.37004C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.2816+14C>T MANE Select NP_000237.2:n.2816+14C>T
ENST00000324288.14:c.2816+14C>T MANE Select ENSP00000316328.8:n.2816+14C>T
NM_000246.3:c.2816+14C>T , LRG_49t1:c.2816+14C>T NP_000237.2:n.2816+14C>T
NM_001286402.1:c.2819+14C>T NP_001273331.1:n.2819+14C>T
NM_001286403.1:c.1064+14C>T NP_001273332.1:n.1064+14C>T
NM_001286403.2:c.1064+14C>T NP_001273332.1:n.1064+14C>T
NM_001379330.1:c.2672+14C>T NP_001366259.1:n.2672+14C>T
NM_001379331.1:c.2669+14C>T NP_001366260.1:n.2669+14C>T
NM_001379332.1:c.2819+14C>T NP_001366261.1:n.2819+14C>T
NM_001379333.1:c.2816+14C>T NP_001366262.1:n.2816+14C>T
NM_001379334.1:c.2747+14C>T NP_001366263.1:n.2747+14C>T
NR_104444.1:n.1140-987C>T
NR_104444.2:n.1136-987C>T
ENST00000324288.12:c.2816+14C>T ENSP00000316328.8:n.2816+14C>T
ENST00000381835.9:c.1064+14C>T ENSP00000371257.5:n.1064+14C>T
ENST00000537380.1:n.1007-987C>T
ENST00000570546.5:n.3816+14C>T
ENST00000618207.4:c.1007-987C>T ENSP00000484761.1:n.1007-987C>T
ENST00000618327.4:c.2819+14C>T ENSP00000485010.1:n.2819+14C>T
XM_006720880.2:c.3113+14C>T XP_006720943.2:n.3113+14C>T
XM_006720880.3:c.3113+14C>T XP_006720943.2:n.3113+14C>T
XM_011522484.1:c.3113+14C>T XP_011520786.1:n.3113+14C>T
XM_011522484.3:c.3113+14C>T XP_011520786.1:n.3113+14C>T
XM_011522485.1:c.3113+14C>T XP_011520787.1:n.3113+14C>T
XM_011522485.2:c.3113+14C>T XP_011520787.1:n.3113+14C>T
XM_011522486.1:c.3113+14C>T XP_011520788.1:n.3113+14C>T
XM_011522486.2:c.3113+14C>T XP_011520788.1:n.3113+14C>T
XM_011522487.1:c.2867+14C>T XP_011520789.1:n.2867+14C>T
XM_011522487.2:c.2867+14C>T XP_011520789.1:n.2867+14C>T
XM_011522488.1:c.2864+14C>T XP_011520790.1:n.2864+14C>T
XM_011522488.2:c.2864+14C>T XP_011520790.1:n.2864+14C>T
XM_011522489.1:c.2864+14C>T XP_011520791.1:n.2864+14C>T
XM_011522489.2:c.2864+14C>T XP_011520791.1:n.2864+14C>T
XM_011522490.1:c.2861+14C>T XP_011520792.1:n.2861+14C>T
XM_011522490.2:c.2861+14C>T XP_011520792.1:n.2861+14C>T
XM_011522491.1:c.3113+14C>T XP_011520793.1:n.3113+14C>T
XM_011522491.2:c.3113+14C>T XP_011520793.1:n.3113+14C>T
XM_011522492.1:c.2819+14C>T XP_011520794.1:n.2819+14C>T
XM_011522492.2:c.2819+14C>T XP_011520794.1:n.2819+14C>T
XM_011522493.1:c.2816+14C>T XP_011520795.1:n.2816+14C>T
XM_011522493.2:c.2816+14C>T XP_011520795.1:n.2816+14C>T
XM_011522494.1:c.2747+14C>T XP_011520796.1:n.2747+14C>T
XM_011522494.2:c.2747+14C>T XP_011520796.1:n.2747+14C>T
XM_011522495.1:c.2672+14C>T XP_011520797.1:n.2672+14C>T
XM_011522495.2:c.2672+14C>T XP_011520797.1:n.2672+14C>T
XM_011522496.1:c.2669+14C>T XP_011520798.1:n.2669+14C>T
XM_011522496.2:c.2669+14C>T XP_011520798.1:n.2669+14C>T
XM_024450280.1:c.3059+14C>T XP_024306048.1:n.3059+14C>T
XM_024450281.1:c.2912+14C>T XP_024306049.1:n.2912+14C>T
XR_001751904.1:n.3178+14C>T
XR_932841.1:n.3128+14C>T
XR_932841.3:n.3130+14C>T
XR_932842.1:n.3128+14C>T
XR_932842.2:n.3130+14C>T
XR_932843.1:n.3128+14C>T
XR_932846.1:n.3174+14C>T
XR_932846.3:n.3178+14C>T
XR_932847.1:n.3174+14C>T
XR_932847.3:n.3178+14C>T
XR_932848.1:n.1214+14C>T