Canonical Allele Identifier: CA348226358

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112686945A>T (hg19) ; chr2:g.111929368A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111929368A>T , CM000664.2:g.111929368A>T	GRCh38
NC_000002.11:g.112686945A>T , CM000664.1:g.112686945A>T	GRCh37
NC_000002.10:g.112403416A>T	NCBI36
NG_011607.1:g.35755A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.310A>T MANE Select	ENSP00000295408.4:p.Ile104Leu
ENST00000295408.8:c.310A>T	ENSP00000295408.4:p.Ile104Leu
ENST00000409780.5:c.-46-15592A>T	ENSP00000387277.1:n.-46-15592A>T
ENST00000421804.6:c.310A>T	ENSP00000389152.2:p.Ile104Leu
ENST00000439966.5:c.246+64A>T	ENSP00000402129.1:n.246+64A>T
ENST00000616902.4:c.-906A>T	ENSP00000482824.1:n.-906A>T
NM_006343.2:c.310A>T	NP_006334.2:p.Ile104Leu
XM_005263565.3:c.310A>T	XP_005263622.1:p.Ile104Leu
XM_005263568.3:c.310A>T	XP_005263625.1:p.Ile104Leu
XM_011510490.1:c.121A>T	XP_011508792.1:p.Ile41Leu
XM_005263565.4:c.310A>T	XP_005263622.1:p.Ile104Leu
XM_005263568.4:c.310A>T	XP_005263625.1:p.Ile104Leu
XM_011510490.3:c.121A>T	XP_011508792.1:p.Ile41Leu
XM_017003164.1:c.121A>T	XP_016858653.1:p.Ile41Leu
XM_017003165.2:c.-958A>T	XP_016858654.1:n.-958A>T
NM_006343.3:c.310A>T MANE Select	NP_006334.2:p.Ile104Leu