Canonical Allele Identifier: CA348229166

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112705072A>C (hg19) ; chr2:g.111947495A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947495A>C , CM000664.2:g.111947495A>C	GRCh38
NC_000002.11:g.112705072A>C , CM000664.1:g.112705072A>C	GRCh37
NC_000002.10:g.112421543A>C	NCBI36
NG_011607.1:g.53882A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.685A>C MANE Select	ENSP00000295408.4:p.Ile229Leu
ENST00000295408.8:c.685A>C	ENSP00000295408.4:p.Ile229Leu
ENST00000409780.5:c.157A>C	ENSP00000387277.1:p.Ile53Leu
ENST00000421804.6:c.685A>C	ENSP00000389152.2:p.Ile229Leu
ENST00000439966.5:c.*158A>C	ENSP00000402129.1:n.*158A>C
ENST00000616902.4:c.-531A>C	ENSP00000482824.1:n.-531A>C
NM_006343.2:c.685A>C	NP_006334.2:p.Ile229Leu
XM_005263565.3:c.685A>C	XP_005263622.1:p.Ile229Leu
XM_005263568.3:c.685A>C	XP_005263625.1:p.Ile229Leu
XM_011510490.1:c.496A>C	XP_011508792.1:p.Ile166Leu
XM_005263565.4:c.685A>C	XP_005263622.1:p.Ile229Leu
XM_005263568.4:c.685A>C	XP_005263625.1:p.Ile229Leu
XM_011510490.3:c.496A>C	XP_011508792.1:p.Ile166Leu
XM_017003164.1:c.496A>C	XP_016858653.1:p.Ile166Leu
XM_017003165.2:c.-583A>C	XP_016858654.1:n.-583A>C
NM_006343.3:c.685A>C MANE Select	NP_006334.2:p.Ile229Leu