Canonical Allele Identifier: CA53582433

Gene: MERTK

Linked Data

• dbSNP Id: rs201578313
• gnomAD v3: 2-112008473-T-C
• gnomAD v4: 2-112008473-T-C
• MyVariant Identifiers: chr2:g.112766050T>C (hg19) ; chr2:g.112008473T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112008473T>C , CM000664.2:g.112008473T>C	GRCh38
NC_000002.11:g.112766050T>C , CM000664.1:g.112766050T>C	GRCh37
NC_000002.10:g.112482521T>C	NCBI36
NG_011607.1:g.114860T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1958T>C MANE Select	ENSP00000295408.4:p.Leu653Pro
ENST00000295408.8:c.1958T>C	ENSP00000295408.4:p.Leu653Pro
ENST00000409780.5:c.1430T>C	ENSP00000387277.1:p.Leu477Pro
ENST00000421804.6:c.1958T>C	ENSP00000389152.2:p.Leu653Pro
ENST00000439966.5:c.*1431T>C	ENSP00000402129.1:n.*1431T>C
ENST00000616902.4:c.923T>C	ENSP00000482824.1:p.Leu308Pro
NM_006343.2:c.1958T>C	NP_006334.2:p.Leu653Pro
XM_005263565.3:c.1958T>C	XP_005263622.1:p.Leu653Pro
XM_005263568.3:c.1958T>C	XP_005263625.1:p.Leu653Pro
XM_011510490.1:c.1769T>C	XP_011508792.1:p.Leu590Pro
XM_011510491.1:c.743T>C	XP_011508793.1:p.Leu248Pro
XM_005263565.4:c.1958T>C	XP_005263622.1:p.Leu653Pro
XM_005263568.4:c.1958T>C	XP_005263625.1:p.Leu653Pro
XM_011510490.3:c.1769T>C	XP_011508792.1:p.Leu590Pro
XM_017003164.1:c.1769T>C	XP_016858653.1:p.Leu590Pro
XM_017003165.2:c.743T>C	XP_016858654.1:p.Leu248Pro
NM_006343.3:c.1958T>C MANE Select	NP_006334.2:p.Leu653Pro