Canonical Allele Identifier: CA348231220

Gene: MERTK

Linked Data

• dbSNP Id: rs1676769481
• gnomAD v4: 2-111997368-C-T
• MyVariant Identifiers: chr2:g.112754945C>T (hg19) ; chr2:g.111997368C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997368C>T , CM000664.2:g.111997368C>T	GRCh38
NC_000002.11:g.112754945C>T , CM000664.1:g.112754945C>T	GRCh37
NC_000002.10:g.112471416C>T	NCBI36
NG_011607.1:g.103755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1496C>T MANE Select	ENSP00000295408.4:p.Ala499Val
ENST00000295408.8:c.1496C>T	ENSP00000295408.4:p.Ala499Val
ENST00000409780.5:c.968C>T	ENSP00000387277.1:p.Ala323Val
ENST00000421804.6:c.1496C>T	ENSP00000389152.2:p.Ala499Val
ENST00000439966.5:c.*969C>T	ENSP00000402129.1:n.*969C>T
ENST00000616902.4:c.465C>T	ENSP00000482824.1:p.Arg155=
NM_006343.2:c.1496C>T	NP_006334.2:p.Ala499Val
XM_005263565.3:c.1496C>T	XP_005263622.1:p.Ala499Val
XM_005263568.3:c.1496C>T	XP_005263625.1:p.Ala499Val
XM_011510490.1:c.1307C>T	XP_011508792.1:p.Ala436Val
XM_011510491.1:c.281C>T	XP_011508793.1:p.Ala94Val
XM_005263565.4:c.1496C>T	XP_005263622.1:p.Ala499Val
XM_005263568.4:c.1496C>T	XP_005263625.1:p.Ala499Val
XM_011510490.3:c.1307C>T	XP_011508792.1:p.Ala436Val
XM_017003164.1:c.1307C>T	XP_016858653.1:p.Ala436Val
XM_017003165.2:c.281C>T	XP_016858654.1:p.Ala94Val
NM_006343.3:c.1496C>T MANE Select	NP_006334.2:p.Ala499Val