Canonical Allele Identifier: CA348231588

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112755039G>C (hg19) ; chr2:g.111997462G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997462G>C , CM000664.2:g.111997462G>C	GRCh38
NC_000002.11:g.112755039G>C , CM000664.1:g.112755039G>C	GRCh37
NC_000002.10:g.112471510G>C	NCBI36
NG_011607.1:g.103849G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1590G>C MANE Select	ENSP00000295408.4:p.Gln530His
ENST00000295408.8:c.1590G>C	ENSP00000295408.4:p.Gln530His
ENST00000409780.5:c.1062G>C	ENSP00000387277.1:p.Gln354His
ENST00000421804.6:c.1590G>C	ENSP00000389152.2:p.Gln530His
ENST00000439966.5:c.*1063G>C	ENSP00000402129.1:n.*1063G>C
ENST00000473065.1:n.93G>C
ENST00000616902.4:c.555G>C	ENSP00000482824.1:p.Gln185His
NM_006343.2:c.1590G>C	NP_006334.2:p.Gln530His
XM_005263565.3:c.1590G>C	XP_005263622.1:p.Gln530His
XM_005263568.3:c.1590G>C	XP_005263625.1:p.Gln530His
XM_011510490.1:c.1401G>C	XP_011508792.1:p.Gln467His
XM_011510491.1:c.375G>C	XP_011508793.1:p.Gln125His
XM_005263565.4:c.1590G>C	XP_005263622.1:p.Gln530His
XM_005263568.4:c.1590G>C	XP_005263625.1:p.Gln530His
XM_011510490.3:c.1401G>C	XP_011508792.1:p.Gln467His
XM_017003164.1:c.1401G>C	XP_016858653.1:p.Gln467His
XM_017003165.2:c.375G>C	XP_016858654.1:p.Gln125His
NM_006343.3:c.1590G>C MANE Select	NP_006334.2:p.Gln530His