Canonical Allele Identifier: CA279300198

Gene: ACSM2A

Linked Data

• dbSNP Id: rs565457869
• gnomAD v2: 16-20490897-T-C
• gnomAD v3: 16-20479575-T-C
• gnomAD v4: 16-20479575-T-C
• MyVariant Identifiers: chr16:g.20490897T>C (hg19) ; chr16:g.20479575T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479575T>C , CM000678.2:g.20479575T>C	GRCh38
NC_000016.9:g.20490897T>C , CM000678.1:g.20490897T>C	GRCh37
NC_000016.8:g.20398398T>C	NCBI36
NG_054721.1:g.33115T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000573854.6:c.1281+898T>C MANE Select	ENSP00000459451.1:n.1281+898T>C
ENST00000219054.10:c.1281+898T>C	ENSP00000219054.6:n.1281+898T>C
ENST00000396104.2:c.1281+898T>C	ENSP00000379411.2:n.1281+898T>C
ENST00000417235.6:c.1044+898T>C	ENSP00000392169.2:n.1044+898T>C
ENST00000570698.5:n.1456+898T>C
ENST00000572843.5:n.1476+898T>C
ENST00000573854.5:c.1281+898T>C	ENSP00000459451.1:n.1281+898T>C
ENST00000575558.5:n.1210+898T>C
ENST00000575690.5:c.1281+898T>C	ENSP00000460349.1:n.1281+898T>C
ENST00000576101.1:n.1033+898T>C
NM_001010845.2:c.1281+898T>C	NP_001010845.1:n.1281+898T>C
NM_001308169.1:c.1044+898T>C	NP_001295098.1:n.1044+898T>C
NM_001308172.1:c.1281+898T>C	NP_001295101.1:n.1281+898T>C
NM_001308954.1:c.1281+898T>C	NP_001295883.1:n.1281+898T>C
XR_243259.2:n.2281+898T>C
XM_017022923.1:c.1281+898T>C	XP_016878412.1:n.1281+898T>C
XM_017022924.2:c.*501T>C	XP_016878413.1:n.*501T>C
XM_017022925.1:c.1044+898T>C	XP_016878414.1:n.1044+898T>C
XM_017022926.2:c.594+898T>C	XP_016878415.1:n.594+898T>C
XR_001751834.2:n.2490+898T>C
NM_001308172.2:c.1281+898T>C MANE Select	NP_001295101.1:n.1281+898T>C
NM_001308169.2:c.1044+898T>C	NP_001295098.1:n.1044+898T>C
NM_001308954.2:c.1281+898T>C	NP_001295883.1:n.1281+898T>C