Canonical Allele Identifier: CA348231408

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112754986A>T (hg19) ; chr2:g.111997409A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997409A>T , CM000664.2:g.111997409A>T	GRCh38
NC_000002.11:g.112754986A>T , CM000664.1:g.112754986A>T	GRCh37
NC_000002.10:g.112471457A>T	NCBI36
NG_011607.1:g.103796A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1537A>T MANE Select	ENSP00000295408.4:p.Ile513Phe
ENST00000295408.8:c.1537A>T	ENSP00000295408.4:p.Ile513Phe
ENST00000409780.5:c.1009A>T	ENSP00000387277.1:p.Ile337Phe
ENST00000421804.6:c.1537A>T	ENSP00000389152.2:p.Ile513Phe
ENST00000439966.5:c.*1010A>T	ENSP00000402129.1:n.*1010A>T
ENST00000473065.1:n.40A>T
ENST00000616902.4:c.505-3A>T	ENSP00000482824.1:n.505-3A>T
NM_006343.2:c.1537A>T	NP_006334.2:p.Ile513Phe
XM_005263565.3:c.1537A>T	XP_005263622.1:p.Ile513Phe
XM_005263568.3:c.1537A>T	XP_005263625.1:p.Ile513Phe
XM_011510490.1:c.1348A>T	XP_011508792.1:p.Ile450Phe
XM_011510491.1:c.322A>T	XP_011508793.1:p.Ile108Phe
XM_005263565.4:c.1537A>T	XP_005263622.1:p.Ile513Phe
XM_005263568.4:c.1537A>T	XP_005263625.1:p.Ile513Phe
XM_011510490.3:c.1348A>T	XP_011508792.1:p.Ile450Phe
XM_017003164.1:c.1348A>T	XP_016858653.1:p.Ile450Phe
XM_017003165.2:c.322A>T	XP_016858654.1:p.Ile108Phe
NM_006343.3:c.1537A>T MANE Select	NP_006334.2:p.Ile513Phe