Canonical Allele Identifier: CA53582433
Gene: MERTK HGNC NCBI

Linked Data

dbSNP Id: rs201578313

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112008473T>C , CM000664.2:g.112008473T>C GRCh38
NC_000002.11:g.112766050T>C , CM000664.1:g.112766050T>C GRCh37
NC_000002.10:g.112482521T>C NCBI36
NG_011607.1:g.114860T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295408.9:c.1958T>C MANE Select ENSP00000295408.4:p.Leu653Pro
ENST00000295408.8:c.1958T>C ENSP00000295408.4:p.Leu653Pro
ENST00000409780.5:c.1430T>C ENSP00000387277.1:p.Leu477Pro
ENST00000421804.6:c.1958T>C ENSP00000389152.2:p.Leu653Pro
ENST00000439966.5:c.*1431T>C ENSP00000402129.1:n.*1431T>C
ENST00000616902.4:c.923T>C ENSP00000482824.1:p.Leu308Pro
NM_006343.2:c.1958T>C NP_006334.2:p.Leu653Pro
XM_005263565.3:c.1958T>C XP_005263622.1:p.Leu653Pro
XM_005263568.3:c.1958T>C XP_005263625.1:p.Leu653Pro
XM_011510490.1:c.1769T>C XP_011508792.1:p.Leu590Pro
XM_011510491.1:c.743T>C XP_011508793.1:p.Leu248Pro
XM_005263565.4:c.1958T>C XP_005263622.1:p.Leu653Pro
XM_005263568.4:c.1958T>C XP_005263625.1:p.Leu653Pro
XM_011510490.3:c.1769T>C XP_011508792.1:p.Leu590Pro
XM_017003164.1:c.1769T>C XP_016858653.1:p.Leu590Pro
XM_017003165.2:c.743T>C XP_016858654.1:p.Leu248Pro
NM_006343.3:c.1958T>C MANE Select NP_006334.2:p.Leu653Pro