Canonical Allele Identifier: CA361805920

Gene: GM2A

Linked Data

• gnomAD v4: 5-151259846-T-G
• MyVariant Identifiers: chr5:g.150639407T>G (hg19) ; chr5:g.151259846T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259846T>G , CM000667.2:g.151259846T>G	GRCh38
NC_000005.9:g.150639407T>G , CM000667.1:g.150639407T>G	GRCh37
NC_000005.8:g.150619600T>G	NCBI36
NG_009059.1:g.11795T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000357164.4:c.173T>G MANE Select	ENSP00000349687.3:p.Ile58Ser
ENST00000357164.3:c.173T>G	ENSP00000349687.3:p.Ile58Ser
ENST00000523004.1:c.48T>G
ENST00000523466.5:c.218T>G	ENSP00000429100.1:p.Ile73Ser
NM_000405.4:c.173T>G	NP_000396.2:p.Ile58Ser
NM_001167607.1:c.173T>G	NP_001161079.1:p.Ile58Ser
NM_000405.5:c.173T>G MANE Select	NP_000396.2:p.Ile58Ser
NM_001167607.2:c.173T>G	NP_001161079.1:p.Ile58Ser
NM_001167607.3:c.173T>G	NP_001161079.1:p.Ile58Ser