Canonical Allele Identifier: CA361805910
Gene: GM2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259841C>G , CM000667.2:g.151259841C>G GRCh38
NC_000005.9:g.150639402C>G , CM000667.1:g.150639402C>G GRCh37
NC_000005.8:g.150619595C>G NCBI36
NG_009059.1:g.11790C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.168C>G MANE Select ENSP00000349687.3:p.Asp56Glu
ENST00000357164.3:c.168C>G ENSP00000349687.3:p.Asp56Glu
ENST00000523004.1:c.43C>G
ENST00000523466.5:c.213C>G ENSP00000429100.1:p.Asp71Glu
NM_000405.4:c.168C>G NP_000396.2:p.Asp56Glu
NM_001167607.1:c.168C>G NP_001161079.1:p.Asp56Glu
NM_000405.5:c.168C>G MANE Select NP_000396.2:p.Asp56Glu
NM_001167607.2:c.168C>G NP_001161079.1:p.Asp56Glu
NM_001167607.3:c.168C>G NP_001161079.1:p.Asp56Glu