Canonical Allele Identifier: CA361805823
Gene: GM2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.150639361A>C (hg19) chr5:g.151259800A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259800A>C , CM000667.2:g.151259800A>C GRCh38
NC_000005.9:g.150639361A>C , CM000667.1:g.150639361A>C GRCh37
NC_000005.8:g.150619554A>C NCBI36
NG_009059.1:g.11749A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.127A>C MANE Select ENSP00000349687.3:p.Lys43Gln
ENST00000357164.3:c.127A>C ENSP00000349687.3:p.Lys43Gln
ENST00000523004.1:c.2A>C
ENST00000523466.5:c.172A>C ENSP00000429100.1:p.Lys58Gln
NM_000405.4:c.127A>C NP_000396.2:p.Lys43Gln
NM_001167607.1:c.127A>C NP_001161079.1:p.Lys43Gln
NM_000405.5:c.127A>C MANE Select NP_000396.2:p.Lys43Gln
NM_001167607.2:c.127A>C NP_001161079.1:p.Lys43Gln
NM_001167607.3:c.127A>C NP_001161079.1:p.Lys43Gln
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