Canonical Allele Identifier: CA348231477

Gene: MERTK

Linked Data

• ClinVar Variation Id: 1501335
• ClinVar RCV Id: RCV002042783
• dbSNP Id: rs1676771800
• gnomAD v3: 2-111997429-A-T
• gnomAD v4: 2-111997429-A-T
• MyVariant Identifiers: chr2:g.112755006A>T (hg19) ; chr2:g.111997429A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997429A>T , CM000664.2:g.111997429A>T	GRCh38
NC_000002.11:g.112755006A>T , CM000664.1:g.112755006A>T	GRCh37
NC_000002.10:g.112471477A>T	NCBI36
NG_011607.1:g.103816A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1557A>T MANE Select	ENSP00000295408.4:p.Leu519Phe
ENST00000295408.8:c.1557A>T	ENSP00000295408.4:p.Leu519Phe
ENST00000409780.5:c.1029A>T	ENSP00000387277.1:p.Leu343Phe
ENST00000421804.6:c.1557A>T	ENSP00000389152.2:p.Leu519Phe
ENST00000439966.5:c.*1030A>T	ENSP00000402129.1:n.*1030A>T
ENST00000473065.1:n.60A>T
ENST00000616902.4:c.522A>T	ENSP00000482824.1:p.Leu174Phe
NM_006343.2:c.1557A>T	NP_006334.2:p.Leu519Phe
XM_005263565.3:c.1557A>T	XP_005263622.1:p.Leu519Phe
XM_005263568.3:c.1557A>T	XP_005263625.1:p.Leu519Phe
XM_011510490.1:c.1368A>T	XP_011508792.1:p.Leu456Phe
XM_011510491.1:c.342A>T	XP_011508793.1:p.Leu114Phe
XM_005263565.4:c.1557A>T	XP_005263622.1:p.Leu519Phe
XM_005263568.4:c.1557A>T	XP_005263625.1:p.Leu519Phe
XM_011510490.3:c.1368A>T	XP_011508792.1:p.Leu456Phe
XM_017003164.1:c.1368A>T	XP_016858653.1:p.Leu456Phe
XM_017003165.2:c.342A>T	XP_016858654.1:p.Leu114Phe
NM_006343.3:c.1557A>T MANE Select	NP_006334.2:p.Leu519Phe