Canonical Allele Identifier: CA361807942
Gene: GM2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.150646370T>C (hg19) chr5:g.151266809T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151266809T>C , CM000667.2:g.151266809T>C GRCh38
NC_000005.9:g.150646370T>C , CM000667.1:g.150646370T>C GRCh37
NC_000005.8:g.150626563T>C NCBI36
NG_009059.1:g.18758T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000357164.4:c.322T>C MANE Select ENSP00000349687.3:p.Phe108Leu
ENST00000357164.3:c.322T>C ENSP00000349687.3:p.Phe108Leu
ENST00000523004.1:c.197T>C
ENST00000523466.5:c.367T>C ENSP00000429100.1:p.Phe123Leu
NM_000405.4:c.322T>C NP_000396.2:p.Phe108Leu
NM_001167607.1:c.322T>C NP_001161079.1:p.Phe108Leu
NM_000405.5:c.322T>C MANE Select NP_000396.2:p.Phe108Leu
NM_001167607.2:c.322T>C NP_001161079.1:p.Phe108Leu
NM_001167607.3:c.322T>C NP_001161079.1:p.Phe108Leu
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