Canonical Allele Identifier: CA3517886
Gene: GM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1428207
ClinVar RCV Id: RCV001936195
dbSNP Id: rs201829650
ExAC: 5:150639412 G / A
gnomAD v2: 5-150639412-G-A
gnomAD v3: 5-151259851-G-A
gnomAD v4: 5-151259851-G-A
MyVariant Identifiers: chr5:g.150639412G>A (hg19) chr5:g.151259851G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259851G>A , CM000667.2:g.151259851G>A GRCh38
NC_000005.9:g.150639412G>A , CM000667.1:g.150639412G>A GRCh37
NC_000005.8:g.150619605G>A NCBI36
NG_009059.1:g.11800G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.178G>A MANE Select ENSP00000349687.3:p.Val60Ile
ENST00000357164.3:c.178G>A ENSP00000349687.3:p.Val60Ile
ENST00000523004.1:c.53G>A
ENST00000523466.5:c.223G>A ENSP00000429100.1:p.Val75Ile
NM_000405.4:c.178G>A NP_000396.2:p.Val60Ile
NM_001167607.1:c.178G>A NP_001161079.1:p.Val60Ile
NM_000405.5:c.178G>A MANE Select NP_000396.2:p.Val60Ile
NM_001167607.2:c.178G>A NP_001161079.1:p.Val60Ile
NM_001167607.3:c.178G>A NP_001161079.1:p.Val60Ile
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