Canonical Allele Identifier: CA7900619
Community Standard Title: NM_000246.4(CIITA):c.3003C>T (p.Asp1001=)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10916400C>T , CM000678.2:g.10916400C>T GRCh38
NC_000016.9:g.11010257C>T , CM000678.1:g.11010257C>T GRCh37
NC_000016.8:g.10917758C>T NCBI36
NG_009628.1:g.44203C>T , LRG_49:g.44203C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.3003C>T MANE Select NP_000237.2:p.Asp1001=
ENST00000324288.14:c.3003C>T MANE Select ENSP00000316328.8:p.Asp1001=
NM_000246.3:c.3003C>T , LRG_49t1:c.3003C>T NP_000237.2:p.Asp1001=
NM_001286402.1:c.3006C>T NP_001273331.1:p.Asp1002=
NM_001286403.1:c.1251C>T NP_001273332.1:p.Asp417=
NM_001286403.2:c.1251C>T NP_001273332.1:p.Asp417=
NM_001379330.1:c.2859C>T NP_001366259.1:p.Asp953=
NM_001379331.1:c.2856C>T NP_001366260.1:p.Asp952=
NM_001379332.1:c.3006C>T NP_001366261.1:p.Asp1002=
NM_001379333.1:c.3003C>T NP_001366262.1:p.Asp1001=
NM_001379334.1:c.2934C>T NP_001366263.1:p.Asp978=
NR_104444.1:n.1326C>T
NR_104444.2:n.1322C>T
ENST00000324288.12:c.3003C>T ENSP00000316328.8:p.Asp1001=
ENST00000381835.9:c.1251C>T ENSP00000371257.5:p.Asp417=
ENST00000570546.5:n.4003C>T
ENST00000572665.1:n.39C>T
ENST00000618207.4:c.*131C>T ENSP00000484761.1:n.*131C>T
ENST00000618327.4:c.3006C>T ENSP00000485010.1:p.Asp1002=
XM_006720880.2:c.3300C>T XP_006720943.2:p.Asp1100=
XM_006720880.3:c.3300C>T XP_006720943.2:p.Asp1100=
XM_011522484.1:c.3300C>T XP_011520786.1:p.Asp1100=
XM_011522484.3:c.3300C>T XP_011520786.1:p.Asp1100=
XM_011522485.1:c.3300C>T XP_011520787.1:p.Asp1100=
XM_011522485.2:c.3300C>T XP_011520787.1:p.Asp1100=
XM_011522486.1:c.3300C>T XP_011520788.1:p.Asp1100=
XM_011522486.2:c.3300C>T XP_011520788.1:p.Asp1100=
XM_011522487.1:c.3054C>T XP_011520789.1:p.Asp1018=
XM_011522487.2:c.3054C>T XP_011520789.1:p.Asp1018=
XM_011522488.1:c.3051C>T XP_011520790.1:p.Asp1017=
XM_011522488.2:c.3051C>T XP_011520790.1:p.Asp1017=
XM_011522489.1:c.3051C>T XP_011520791.1:p.Asp1017=
XM_011522489.2:c.3051C>T XP_011520791.1:p.Asp1017=
XM_011522490.1:c.3048C>T XP_011520792.1:p.Asp1016=
XM_011522490.2:c.3048C>T XP_011520792.1:p.Asp1016=
XM_011522491.1:c.3300C>T XP_011520793.1:p.Asp1100=
XM_011522491.2:c.3300C>T XP_011520793.1:p.Asp1100=
XM_011522492.1:c.3006C>T XP_011520794.1:p.Asp1002=
XM_011522492.2:c.3006C>T XP_011520794.1:p.Asp1002=
XM_011522493.1:c.3003C>T XP_011520795.1:p.Asp1001=
XM_011522493.2:c.3003C>T XP_011520795.1:p.Asp1001=
XM_011522494.1:c.2934C>T XP_011520796.1:p.Asp978=
XM_011522494.2:c.2934C>T XP_011520796.1:p.Asp978=
XM_011522495.1:c.2859C>T XP_011520797.1:p.Asp953=
XM_011522495.2:c.2859C>T XP_011520797.1:p.Asp953=
XM_011522496.1:c.2856C>T XP_011520798.1:p.Asp952=
XM_011522496.2:c.2856C>T XP_011520798.1:p.Asp952=
XM_024450280.1:c.3246C>T XP_024306048.1:p.Asp1082=
XM_024450281.1:c.3099C>T XP_024306049.1:p.Asp1033=
XR_001751904.1:n.3365C>T
XR_932841.1:n.3315C>T
XR_932841.3:n.3317C>T
XR_932842.1:n.3315C>T
XR_932842.2:n.3317C>T
XR_932843.1:n.3315C>T
XR_932846.1:n.3361C>T
XR_932846.3:n.3365C>T
XR_932847.1:n.3361C>T
XR_932847.3:n.3365C>T
XR_932848.1:n.1401C>T