Canonical Allele Identifier: CA353559391
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964889C>T , CM000665.2:g.69964889C>T GRCh38
NC_000003.11:g.70014040C>T , CM000665.1:g.70014040C>T GRCh37
NC_000003.10:g.70096730C>T NCBI36
NG_011631.1:g.230408C>T , LRG_776:g.230408C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000314589.11:c.1156C>T ENSP00000324443.5:p.Pro386Ser
ENST00000687384.1:c.1153C>T ENSP00000510225.1:p.Pro385Ser
ENST00000689390.1:n.1378C>T
ENST00000693031.1:c.1129C>T ENSP00000509845.1:p.Pro377Ser
ENST00000693549.1:c.1114-25C>T ENSP00000509358.1:n.1114-25C>T
ENST00000314589.10:c.1156C>T ENSP00000324443.5:p.Pro386Ser
ENST00000352241.9:c.1222C>T MANE Select ENSP00000295600.8:p.Pro408Ser
ENST00000394351.9:c.901C>T MANE Plus Clinical ENSP00000377880.3:p.Pro301Ser
ENST00000448226.9:c.1201C>T ENSP00000391803.3:p.Pro401Ser
ENST00000642352.1:c.1204C>T ENSP00000494105.1:p.Pro402Ser
ENST00000314557.10:c.883C>T ENSP00000324246.6:p.Pro295Ser
ENST00000314589.9:c.1156C>T ENSP00000324443.5:p.Pro386Ser
ENST00000328528.10:c.1201C>T ENSP00000327867.6:p.Pro401Ser
ENST00000352241.8:c.1204C>T ENSP00000295600.7:p.Pro402Ser
ENST00000394351.7:c.901C>T ENSP00000377880.3:p.Pro301Ser
ENST00000448226.6:c.1222C>T ENSP00000391803.2:p.Pro408Ser
ENST00000472437.5:c.1048C>T ENSP00000418845.1:p.Pro350Ser
ENST00000478490.5:c.*548C>T ENSP00000433487.1:n.*548C>T
ENST00000531774.1:c.715C>T ENSP00000435909.1:p.Pro239Ser
NM_000248.3:c.901C>T , LRG_776t1:c.901C>T NP_000239.1:p.Pro301Ser
NM_001184967.1:c.1048C>T NP_001171896.1:p.Pro350Ser
NM_006722.2:c.1201C>T NP_006713.1:p.Pro401Ser
NM_198158.2:c.883C>T NP_937801.1:p.Pro295Ser
NM_198159.2:c.1204C>T NP_937802.1:p.Pro402Ser
NM_198177.2:c.1156C>T NP_937820.1:p.Pro386Ser
NM_198178.2:c.715C>T NP_937821.2:p.Pro239Ser
XM_005264754.1:c.1222C>T XP_005264811.1:p.Pro408Ser
XM_005264755.2:c.1174C>T XP_005264812.1:p.Pro392Ser
XM_006713164.2:c.1066C>T XP_006713227.1:p.Pro356Ser
XM_011533722.1:c.1219C>T XP_011532024.1:p.Pro407Ser
XM_011533723.1:c.1171C>T XP_011532025.1:p.Pro391Ser
XM_011533724.1:c.1066C>T XP_011532026.1:p.Pro356Ser
XM_011533725.1:c.1054C>T XP_011532027.1:p.Pro352Ser
XM_011533726.1:c.1036C>T XP_011532028.1:p.Pro346Ser
NM_001354604.1:c.1222C>T NP_001341533.1:p.Pro408Ser
NM_001354605.1:c.1219C>T NP_001341534.1:p.Pro407Ser
NM_001354606.1:c.1201C>T NP_001341535.1:p.Pro401Ser
NM_001354607.1:c.1153C>T NP_001341536.1:p.Pro385Ser
NM_001354608.1:c.1048C>T NP_001341537.1:p.Pro350Ser
NM_001184967.2:c.1048C>T NP_001171896.1:p.Pro350Ser
NM_001354604.2:c.1222C>T MANE Select NP_001341533.1:p.Pro408Ser
NM_001354605.2:c.1219C>T NP_001341534.1:p.Pro407Ser
NM_001354606.2:c.1201C>T NP_001341535.1:p.Pro401Ser
NM_001354607.2:c.1153C>T NP_001341536.1:p.Pro385Ser
NM_001354608.2:c.1048C>T NP_001341537.1:p.Pro350Ser
NM_198158.3:c.883C>T NP_937801.1:p.Pro295Ser
NM_198159.3:c.1204C>T NP_937802.1:p.Pro402Ser
NM_198177.3:c.1156C>T NP_937820.1:p.Pro386Ser
NM_198178.3:c.715C>T NP_937821.2:p.Pro239Ser
NM_000248.4:c.901C>T MANE Plus Clinical NP_000239.1:p.Pro301Ser
NM_006722.3:c.1201C>T NP_006713.1:p.Pro401Ser