Canonical Allele Identifier: CA447179967

Gene: GM2A

Linked Data

• MyVariant Identifiers: chr5:g.150639474G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259913G>C , CM000667.2:g.151259913G>C	GRCh38
NC_000005.9:g.150639474G>C , CM000667.1:g.150639474G>C	GRCh37
NC_000005.8:g.150619667G>C	NCBI36
NG_009059.1:g.11862G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.240G>C MANE Select	ENSP00000349687.3:p.Leu80=
ENST00000357164.3:c.240G>C	ENSP00000349687.3:p.Leu80=
ENST00000523004.1:c.115G>C
ENST00000523466.5:c.285G>C	ENSP00000429100.1:p.Leu95=
NM_000405.4:c.240G>C	NP_000396.2:p.Leu80=
NM_001167607.1:c.240G>C	NP_001161079.1:p.Leu80=
NM_000405.5:c.240G>C MANE Select	NP_000396.2:p.Leu80=
NM_001167607.2:c.240G>C	NP_001161079.1:p.Leu80=
NM_001167607.3:c.240G>C	NP_001161079.1:p.Leu80=