Canonical Allele Identifier: CA1831451

Gene: MERTK

Linked Data

• dbSNP Id: rs748932248
• ExAC: 2:112754963 T / C
• gnomAD v2: 2-112754963-T-C
• MyVariant Identifiers: chr2:g.112754963T>C (hg19) ; chr2:g.111997386T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997386T>C , CM000664.2:g.111997386T>C	GRCh38
NC_000002.11:g.112754963T>C , CM000664.1:g.112754963T>C	GRCh37
NC_000002.10:g.112471434T>C	NCBI36
NG_011607.1:g.103773T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295408.9:c.1514T>C MANE Select	ENSP00000295408.4:p.Ile505Thr
ENST00000295408.8:c.1514T>C	ENSP00000295408.4:p.Ile505Thr
ENST00000409780.5:c.986T>C	ENSP00000387277.1:p.Ile329Thr
ENST00000421804.6:c.1514T>C	ENSP00000389152.2:p.Ile505Thr
ENST00000439966.5:c.*987T>C	ENSP00000402129.1:n.*987T>C
ENST00000473065.1:n.17T>C
ENST00000616902.4:c.483T>C	ENSP00000482824.1:p.His161=
NM_006343.2:c.1514T>C	NP_006334.2:p.Ile505Thr
XM_005263565.3:c.1514T>C	XP_005263622.1:p.Ile505Thr
XM_005263568.3:c.1514T>C	XP_005263625.1:p.Ile505Thr
XM_011510490.1:c.1325T>C	XP_011508792.1:p.Ile442Thr
XM_011510491.1:c.299T>C	XP_011508793.1:p.Ile100Thr
XM_005263565.4:c.1514T>C	XP_005263622.1:p.Ile505Thr
XM_005263568.4:c.1514T>C	XP_005263625.1:p.Ile505Thr
XM_011510490.3:c.1325T>C	XP_011508792.1:p.Ile442Thr
XM_017003164.1:c.1325T>C	XP_016858653.1:p.Ile442Thr
XM_017003165.2:c.299T>C	XP_016858654.1:p.Ile100Thr
NM_006343.3:c.1514T>C MANE Select	NP_006334.2:p.Ile505Thr