Canonical Allele Identifier: CA428274323

Gene: MERTK

Linked Data

• gnomAD v4: 2-111997441-G-A
• MyVariant Identifiers: chr2:g.112755018G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997441G>A , CM000664.2:g.111997441G>A	GRCh38
NC_000002.11:g.112755018G>A , CM000664.1:g.112755018G>A	GRCh37
NC_000002.10:g.112471489G>A	NCBI36
NG_011607.1:g.103828G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1569G>A MANE Select	ENSP00000295408.4:p.Leu523=
ENST00000295408.8:c.1569G>A	ENSP00000295408.4:p.Leu523=
ENST00000409780.5:c.1041G>A	ENSP00000387277.1:p.Leu347=
ENST00000421804.6:c.1569G>A	ENSP00000389152.2:p.Leu523=
ENST00000439966.5:c.*1042G>A	ENSP00000402129.1:n.*1042G>A
ENST00000473065.1:n.72G>A
ENST00000616902.4:c.534G>A	ENSP00000482824.1:p.Leu178=
NM_006343.2:c.1569G>A	NP_006334.2:p.Leu523=
XM_005263565.3:c.1569G>A	XP_005263622.1:p.Leu523=
XM_005263568.3:c.1569G>A	XP_005263625.1:p.Leu523=
XM_011510490.1:c.1380G>A	XP_011508792.1:p.Leu460=
XM_011510491.1:c.354G>A	XP_011508793.1:p.Leu118=
XM_005263565.4:c.1569G>A	XP_005263622.1:p.Leu523=
XM_005263568.4:c.1569G>A	XP_005263625.1:p.Leu523=
XM_011510490.3:c.1380G>A	XP_011508792.1:p.Leu460=
XM_017003164.1:c.1380G>A	XP_016858653.1:p.Leu460=
XM_017003165.2:c.354G>A	XP_016858654.1:p.Leu118=
NM_006343.3:c.1569G>A MANE Select	NP_006334.2:p.Leu523=