Canonical Allele Identifier: CA1831110

Gene: MERTK

Linked Data

• dbSNP Id: rs749184467
• ExAC: 2:112704974 T / A
• gnomAD v2: 2-112704974-T-A
• MyVariant Identifiers: chr2:g.112704974T>A (hg19) ; chr2:g.111947397T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947397T>A , CM000664.2:g.111947397T>A	GRCh38
NC_000002.11:g.112704974T>A , CM000664.1:g.112704974T>A	GRCh37
NC_000002.10:g.112421445T>A	NCBI36
NG_011607.1:g.53784T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.587T>A MANE Select	ENSP00000295408.4:p.Leu196His
ENST00000295408.8:c.587T>A	ENSP00000295408.4:p.Leu196His
ENST00000409780.5:c.59T>A	ENSP00000387277.1:p.Leu20His
ENST00000421804.6:c.587T>A	ENSP00000389152.2:p.Leu196His
ENST00000439966.5:c.*60T>A	ENSP00000402129.1:n.*60T>A
ENST00000616902.4:c.-629T>A	ENSP00000482824.1:n.-629T>A
NM_006343.2:c.587T>A	NP_006334.2:p.Leu196His
XM_005263565.3:c.587T>A	XP_005263622.1:p.Leu196His
XM_005263568.3:c.587T>A	XP_005263625.1:p.Leu196His
XM_011510490.1:c.398T>A	XP_011508792.1:p.Leu133His
XM_005263565.4:c.587T>A	XP_005263622.1:p.Leu196His
XM_005263568.4:c.587T>A	XP_005263625.1:p.Leu196His
XM_011510490.3:c.398T>A	XP_011508792.1:p.Leu133His
XM_017003164.1:c.398T>A	XP_016858653.1:p.Leu133His
XM_017003165.2:c.-681T>A	XP_016858654.1:n.-681T>A
NM_006343.3:c.587T>A MANE Select	NP_006334.2:p.Leu196His