Canonical Allele Identifier: CA361805914
Gene: GM2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.150639404C>A (hg19) chr5:g.151259843C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259843C>A , CM000667.2:g.151259843C>A GRCh38
NC_000005.9:g.150639404C>A , CM000667.1:g.150639404C>A GRCh37
NC_000005.8:g.150619597C>A NCBI36
NG_009059.1:g.11792C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000357164.4:c.170C>A MANE Select ENSP00000349687.3:p.Pro57His
ENST00000357164.3:c.170C>A ENSP00000349687.3:p.Pro57His
ENST00000523004.1:c.45C>A
ENST00000523466.5:c.215C>A ENSP00000429100.1:p.Pro72His
NM_000405.4:c.170C>A NP_000396.2:p.Pro57His
NM_001167607.1:c.170C>A NP_001161079.1:p.Pro57His
NM_000405.5:c.170C>A MANE Select NP_000396.2:p.Pro57His
NM_001167607.2:c.170C>A NP_001161079.1:p.Pro57His
NM_001167607.3:c.170C>A NP_001161079.1:p.Pro57His
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