Canonical Allele Identifier: CA361805898

Gene: GM2A

Linked Data

• gnomAD v4: 5-151259836-C-A
• MyVariant Identifiers: chr5:g.150639397C>A (hg19) ; chr5:g.151259836C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259836C>A , CM000667.2:g.151259836C>A	GRCh38
NC_000005.9:g.150639397C>A , CM000667.1:g.150639397C>A	GRCh37
NC_000005.8:g.150619590C>A	NCBI36
NG_009059.1:g.11785C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000357164.4:c.163C>A MANE Select	ENSP00000349687.3:p.Pro55Thr
ENST00000357164.3:c.163C>A	ENSP00000349687.3:p.Pro55Thr
ENST00000523004.1:c.38C>A
ENST00000523466.5:c.208C>A	ENSP00000429100.1:p.Pro70Thr
NM_000405.4:c.163C>A	NP_000396.2:p.Pro55Thr
NM_001167607.1:c.163C>A	NP_001161079.1:p.Pro55Thr
NM_000405.5:c.163C>A MANE Select	NP_000396.2:p.Pro55Thr
NM_001167607.2:c.163C>A	NP_001161079.1:p.Pro55Thr
NM_001167607.3:c.163C>A	NP_001161079.1:p.Pro55Thr