Canonical Allele Identifier: CA53574342

Gene: MERTK

Linked Data

• dbSNP Id: rs978397888
• gnomAD v3: 2-111997343-T-A
• gnomAD v4: 2-111997343-T-A
• MyVariant Identifiers: chr2:g.112754920T>A (hg19) ; chr2:g.111997343T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997343T>A , CM000664.2:g.111997343T>A	GRCh38
NC_000002.11:g.112754920T>A , CM000664.1:g.112754920T>A	GRCh37
NC_000002.10:g.112471391T>A	NCBI36
NG_011607.1:g.103730T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1471T>A MANE Select	ENSP00000295408.4:p.Ser491Thr
ENST00000295408.8:c.1471T>A	ENSP00000295408.4:p.Ser491Thr
ENST00000409780.5:c.943T>A	ENSP00000387277.1:p.Ser315Thr
ENST00000421804.6:c.1471T>A	ENSP00000389152.2:p.Ser491Thr
ENST00000439966.5:c.*944T>A	ENSP00000402129.1:n.*944T>A
ENST00000616902.4:c.440T>A	ENSP00000482824.1:p.Leu147His
NM_006343.2:c.1471T>A	NP_006334.2:p.Ser491Thr
XM_005263565.3:c.1471T>A	XP_005263622.1:p.Ser491Thr
XM_005263568.3:c.1471T>A	XP_005263625.1:p.Ser491Thr
XM_011510490.1:c.1282T>A	XP_011508792.1:p.Ser428Thr
XM_011510491.1:c.256T>A	XP_011508793.1:p.Ser86Thr
XM_005263565.4:c.1471T>A	XP_005263622.1:p.Ser491Thr
XM_005263568.4:c.1471T>A	XP_005263625.1:p.Ser491Thr
XM_011510490.3:c.1282T>A	XP_011508792.1:p.Ser428Thr
XM_017003164.1:c.1282T>A	XP_016858653.1:p.Ser428Thr
XM_017003165.2:c.256T>A	XP_016858654.1:p.Ser86Thr
NM_006343.3:c.1471T>A MANE Select	NP_006334.2:p.Ser491Thr