Canonical Allele Identifier: CA348231187

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112754942A>C (hg19) ; chr2:g.111997365A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997365A>C , CM000664.2:g.111997365A>C	GRCh38
NC_000002.11:g.112754942A>C , CM000664.1:g.112754942A>C	GRCh37
NC_000002.10:g.112471413A>C	NCBI36
NG_011607.1:g.103752A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1493A>C MANE Select	ENSP00000295408.4:p.Asn498Thr
ENST00000295408.8:c.1493A>C	ENSP00000295408.4:p.Asn498Thr
ENST00000409780.5:c.965A>C	ENSP00000387277.1:p.Asn322Thr
ENST00000421804.6:c.1493A>C	ENSP00000389152.2:p.Asn498Thr
ENST00000439966.5:c.*966A>C	ENSP00000402129.1:n.*966A>C
ENST00000616902.4:c.462A>C	ENSP00000482824.1:p.Gln154His
NM_006343.2:c.1493A>C	NP_006334.2:p.Asn498Thr
XM_005263565.3:c.1493A>C	XP_005263622.1:p.Asn498Thr
XM_005263568.3:c.1493A>C	XP_005263625.1:p.Asn498Thr
XM_011510490.1:c.1304A>C	XP_011508792.1:p.Asn435Thr
XM_011510491.1:c.278A>C	XP_011508793.1:p.Asn93Thr
XM_005263565.4:c.1493A>C	XP_005263622.1:p.Asn498Thr
XM_005263568.4:c.1493A>C	XP_005263625.1:p.Asn498Thr
XM_011510490.3:c.1304A>C	XP_011508792.1:p.Asn435Thr
XM_017003164.1:c.1304A>C	XP_016858653.1:p.Asn435Thr
XM_017003165.2:c.278A>C	XP_016858654.1:p.Asn93Thr
NM_006343.3:c.1493A>C MANE Select	NP_006334.2:p.Asn498Thr