Canonical Allele Identifier: CA361805809
Gene: GM2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.150639355G>C (hg19) chr5:g.151259794G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259794G>C , CM000667.2:g.151259794G>C GRCh38
NC_000005.9:g.150639355G>C , CM000667.1:g.150639355G>C GRCh37
NC_000005.8:g.150619548G>C NCBI36
NG_009059.1:g.11743G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.121G>C MANE Select ENSP00000349687.3:p.Glu41Gln
ENST00000357164.3:c.121G>C ENSP00000349687.3:p.Glu41Gln
ENST00000523466.5:c.166G>C ENSP00000429100.1:p.Glu56Gln
NM_000405.4:c.121G>C NP_000396.2:p.Glu41Gln
NM_001167607.1:c.121G>C NP_001161079.1:p.Glu41Gln
NM_000405.5:c.121G>C MANE Select NP_000396.2:p.Glu41Gln
NM_001167607.2:c.121G>C NP_001161079.1:p.Glu41Gln
NM_001167607.3:c.121G>C NP_001161079.1:p.Glu41Gln
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