Canonical Allele Identifier: CA10581655

Gene: MERTK

Linked Data

• ClinVar Variation Id: 236453
• ClinVar RCV Id: RCV000225591 ; RCV001854798 ; RCV001723812
• dbSNP Id: rs878853353
• gnomAD v2: 2-112779111-G-A
• gnomAD v3: 2-112021534-G-A
• gnomAD v4: 2-112021534-G-A
• MyVariant Identifiers: chr2:g.112779111G>A (hg19) ; chr2:g.112779111_112779113delinsACC (hg19) ; chr2:g.112021534G>A (hg38) ; chr2:g.112021534_112021536delinsACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112021534G>A , CM000664.2:g.112021534G>A	GRCh38
NC_000002.11:g.112779111G>A , CM000664.1:g.112779111G>A	GRCh37
NC_000002.10:g.112495582G>A	NCBI36
NG_011607.1:g.127921G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.2302G>A MANE Select	ENSP00000295408.4:p.Ala768Thr
ENST00000295408.8:c.2302G>A	ENSP00000295408.4:p.Ala768Thr
ENST00000409780.5:c.1774G>A	ENSP00000387277.1:p.Ala592Thr
ENST00000421804.6:c.2302G>A	ENSP00000389152.2:p.Ala768Thr
ENST00000439966.5:c.*1775G>A	ENSP00000402129.1:n.*1775G>A
ENST00000449344.2:c.274G>A	ENSP00000412660.2:p.Ala92Thr
ENST00000616902.4:c.1258G>A	ENSP00000482824.1:p.Ala420Thr
NM_006343.2:c.2302G>A	NP_006334.2:p.Ala768Thr
XM_005263565.3:c.2302G>A	XP_005263622.1:p.Ala768Thr
XM_011510490.1:c.2113G>A	XP_011508792.1:p.Ala705Thr
XM_011510491.1:c.1087G>A	XP_011508793.1:p.Ala363Thr
XM_005263565.4:c.2302G>A	XP_005263622.1:p.Ala768Thr
XM_011510490.3:c.2113G>A	XP_011508792.1:p.Ala705Thr
XM_017003164.1:c.2113G>A	XP_016858653.1:p.Ala705Thr
XM_017003165.2:c.1087G>A	XP_016858654.1:p.Ala363Thr
NM_006343.3:c.2302G>A MANE Select	NP_006334.2:p.Ala768Thr