Canonical Allele Identifier: CA53591400
Community Standard Title: NM_006343.3(MERTK):c.2219C>T (p.Ala740Val)
Gene: MERTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112021451C>T , CM000664.2:g.112021451C>T GRCh38
NC_000002.11:g.112779028C>T , CM000664.1:g.112779028C>T GRCh37
NC_000002.10:g.112495499C>T NCBI36
NG_011607.1:g.127838C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006343.3:c.2219C>T MANE Select NP_006334.2:p.Ala740Val
ENST00000295408.9:c.2219C>T MANE Select ENSP00000295408.4:p.Ala740Val
NM_006343.2:c.2219C>T NP_006334.2:p.Ala740Val
ENST00000295408.8:c.2219C>T ENSP00000295408.4:p.Ala740Val
ENST00000409780.5:c.1691C>T ENSP00000387277.1:p.Ala564Val
ENST00000421804.6:c.2219C>T ENSP00000389152.2:p.Ala740Val
ENST00000439966.5:c.*1692C>T ENSP00000402129.1:n.*1692C>T
ENST00000449344.2:c.191C>T ENSP00000412660.2:p.Ala64Val
ENST00000616902.4:c.1175C>T ENSP00000482824.1:p.Ala392Val
XM_005263565.3:c.2219C>T XP_005263622.1:p.Ala740Val
XM_005263565.4:c.2219C>T XP_005263622.1:p.Ala740Val
XM_011510490.1:c.2030C>T XP_011508792.1:p.Ala677Val
XM_011510490.3:c.2030C>T XP_011508792.1:p.Ala677Val
XM_011510491.1:c.1004C>T XP_011508793.1:p.Ala335Val
XM_017003164.1:c.2030C>T XP_016858653.1:p.Ala677Val
XM_017003165.2:c.1004C>T XP_016858654.1:p.Ala335Val