Canonical Allele Identifier: CA2212012433

Gene: ACSM2A

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001308172.2:c.1538C= MANE Select	NP_001295101.1:p.Ser513=
ENST00000573854.6:c.1538C= MANE Select	ENSP00000459451.1:p.Ser513=
NM_001010845.2:c.1538C=	NP_001010845.1:p.Ser513=
NM_001308169.1:c.1301C=	NP_001295098.1:p.Ser434=
NM_001308169.2:c.1301C=	NP_001295098.1:p.Ser434=
NM_001308172.1:c.1538C=	NP_001295101.1:p.Ser513=
NM_001308954.1:c.1538C=	NP_001295883.1:p.Ser513=
NM_001308954.2:c.1538C=	NP_001295883.1:p.Ser513=
ENST00000219054.10:c.1538C=	ENSP00000219054.6:p.Ser513=
ENST00000396104.2:c.1538C=	ENSP00000379411.2:p.Ser513=
ENST00000417235.6:c.1301C=	ENSP00000392169.2:p.Ser434=
ENST00000572843.5:n.1733C=
ENST00000573854.5:c.1538C=	ENSP00000459451.1:p.Ser513=
ENST00000575690.5:c.1538C=	ENSP00000460349.1:p.Ser513=
ENST00000576119.1:n.817C=
XM_017022923.1:c.1538C=	XP_016878412.1:p.Ser513=
XM_017022926.2:c.851C=	XP_016878415.1:p.Ser284=
XR_001751834.2:n.2747C=
XR_243259.2:n.2538C=