Canonical Allele Identifier: CA7941750

Gene: ACSM2A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20483086C>G , CM000678.2:g.20483086C>G	GRCh38
NC_000016.9:g.20494408C>G , CM000678.1:g.20494408C>G	GRCh37
NC_000016.8:g.20401909C>G	NCBI36
NG_054721.1:g.36626C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1538C>G MANE Select	ENSP00000459451.1:p.Ser513Trp
ENST00000219054.10:c.1538C>G	ENSP00000219054.6:p.Ser513Trp
ENST00000396104.2:c.1538C>G	ENSP00000379411.2:p.Ser513Trp
ENST00000417235.6:c.1301C>G	ENSP00000392169.2:p.Ser434Trp
ENST00000572843.5:n.1733C>G
ENST00000573854.5:c.1538C>G	ENSP00000459451.1:p.Ser513Trp
ENST00000575690.5:c.1538C>G	ENSP00000460349.1:p.Ser513Trp
ENST00000576119.1:n.817C>G
NM_001010845.2:c.1538C>G	NP_001010845.1:p.Ser513Trp
NM_001308169.1:c.1301C>G	NP_001295098.1:p.Ser434Trp
NM_001308172.1:c.1538C>G	NP_001295101.1:p.Ser513Trp
NM_001308954.1:c.1538C>G	NP_001295883.1:p.Ser513Trp
XR_243259.2:n.2538C>G
XM_017022923.1:c.1538C>G	XP_016878412.1:p.Ser513Trp
XM_017022926.2:c.851C>G	XP_016878415.1:p.Ser284Trp
XR_001751834.2:n.2747C>G
NM_001308172.2:c.1538C>G MANE Select	NP_001295101.1:p.Ser513Trp
NM_001308169.2:c.1301C>G	NP_001295098.1:p.Ser434Trp
NM_001308954.2:c.1538C>G	NP_001295883.1:p.Ser513Trp