Canonical Allele Identifier: CA348231534
Gene: MERTK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.111997445A>T , CM000664.2:g.111997445A>T GRCh38
NC_000002.11:g.112755022A>T , CM000664.1:g.112755022A>T GRCh37
NC_000002.10:g.112471493A>T NCBI36
NG_011607.1:g.103832A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295408.9:c.1573A>T MANE Select ENSP00000295408.4:p.Ile525Phe
ENST00000295408.8:c.1573A>T ENSP00000295408.4:p.Ile525Phe
ENST00000409780.5:c.1045A>T ENSP00000387277.1:p.Ile349Phe
ENST00000421804.6:c.1573A>T ENSP00000389152.2:p.Ile525Phe
ENST00000439966.5:c.*1046A>T ENSP00000402129.1:n.*1046A>T
ENST00000473065.1:n.76A>T
ENST00000616902.4:c.538A>T ENSP00000482824.1:p.Ile180Phe
NM_006343.2:c.1573A>T NP_006334.2:p.Ile525Phe
XM_005263565.3:c.1573A>T XP_005263622.1:p.Ile525Phe
XM_005263568.3:c.1573A>T XP_005263625.1:p.Ile525Phe
XM_011510490.1:c.1384A>T XP_011508792.1:p.Ile462Phe
XM_011510491.1:c.358A>T XP_011508793.1:p.Ile120Phe
XM_005263565.4:c.1573A>T XP_005263622.1:p.Ile525Phe
XM_005263568.4:c.1573A>T XP_005263625.1:p.Ile525Phe
XM_011510490.3:c.1384A>T XP_011508792.1:p.Ile462Phe
XM_017003164.1:c.1384A>T XP_016858653.1:p.Ile462Phe
XM_017003165.2:c.358A>T XP_016858654.1:p.Ile120Phe
NM_006343.3:c.1573A>T MANE Select NP_006334.2:p.Ile525Phe