Canonical Allele Identifier: CA2676067283

Gene: GM2A

Linked Data

• gnomAD v4: 5-151259927-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259927G>T , CM000667.2:g.151259927G>T	GRCh38
NC_000005.9:g.150639488G>T , CM000667.1:g.150639488G>T	GRCh37
NC_000005.8:g.150619681G>T	NCBI36
NG_009059.1:g.11876G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.243+11G>T MANE Select	ENSP00000349687.3:n.243+11G>T
ENST00000357164.3:c.243+11G>T	ENSP00000349687.3:n.243+11G>T
ENST00000523004.1:c.118+11G>T
ENST00000523466.5:c.288+11G>T	ENSP00000429100.1:n.288+11G>T
NM_000405.4:c.243+11G>T	NP_000396.2:n.243+11G>T
NM_001167607.1:c.243+11G>T	NP_001161079.1:n.243+11G>T
NM_000405.5:c.243+11G>T MANE Select	NP_000396.2:n.243+11G>T
NM_001167607.2:c.243+11G>T	NP_001161079.1:n.243+11G>T
NM_001167607.3:c.243+11G>T	NP_001161079.1:n.243+11G>T