Canonical Allele Identifier: CA1831448
Gene: MERTK HGNC NCBI

Linked Data

ClinVar Variation Id: 1021648
ClinVar RCV Id: RCV001321446
dbSNP Id: rs147206385

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.111997367G>A , CM000664.2:g.111997367G>A GRCh38
NC_000002.11:g.112754944G>A , CM000664.1:g.112754944G>A GRCh37
NC_000002.10:g.112471415G>A NCBI36
NG_011607.1:g.103754G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295408.9:c.1495G>A MANE Select ENSP00000295408.4:p.Ala499Thr
ENST00000295408.8:c.1495G>A ENSP00000295408.4:p.Ala499Thr
ENST00000409780.5:c.967G>A ENSP00000387277.1:p.Ala323Thr
ENST00000421804.6:c.1495G>A ENSP00000389152.2:p.Ala499Thr
ENST00000439966.5:c.*968G>A ENSP00000402129.1:n.*968G>A
ENST00000616902.4:c.464G>A ENSP00000482824.1:p.Arg155His
NM_006343.2:c.1495G>A NP_006334.2:p.Ala499Thr
XM_005263565.3:c.1495G>A XP_005263622.1:p.Ala499Thr
XM_005263568.3:c.1495G>A XP_005263625.1:p.Ala499Thr
XM_011510490.1:c.1306G>A XP_011508792.1:p.Ala436Thr
XM_011510491.1:c.280G>A XP_011508793.1:p.Ala94Thr
XM_005263565.4:c.1495G>A XP_005263622.1:p.Ala499Thr
XM_005263568.4:c.1495G>A XP_005263625.1:p.Ala499Thr
XM_011510490.3:c.1306G>A XP_011508792.1:p.Ala436Thr
XM_017003164.1:c.1306G>A XP_016858653.1:p.Ala436Thr
XM_017003165.2:c.280G>A XP_016858654.1:p.Ala94Thr
NM_006343.3:c.1495G>A MANE Select NP_006334.2:p.Ala499Thr