Canonical Allele Identifier: CA805653969

Gene: GM2A

Linked Data

• dbSNP Id: rs1490248131
• gnomAD v3: 5-151259922-C-A
• gnomAD v4: 5-151259922-C-A
• MyVariant Identifiers: chr5:g.150639483C>A (hg19) ; chr5:g.151259922C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259922C>A , CM000667.2:g.151259922C>A	GRCh38
NC_000005.9:g.150639483C>A , CM000667.1:g.150639483C>A	GRCh37
NC_000005.8:g.150619676C>A	NCBI36
NG_009059.1:g.11871C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.243+6C>A MANE Select	ENSP00000349687.3:n.243+6C>A
ENST00000357164.3:c.243+6C>A	ENSP00000349687.3:n.243+6C>A
ENST00000523004.1:c.118+6C>A
ENST00000523466.5:c.288+6C>A	ENSP00000429100.1:n.288+6C>A
NM_000405.4:c.243+6C>A	NP_000396.2:n.243+6C>A
NM_001167607.1:c.243+6C>A	NP_001161079.1:n.243+6C>A
NM_000405.5:c.243+6C>A MANE Select	NP_000396.2:n.243+6C>A
NM_001167607.2:c.243+6C>A	NP_001161079.1:n.243+6C>A
NM_001167607.3:c.243+6C>A	NP_001161079.1:n.243+6C>A