Canonical Allele Identifier: CA418207486
Gene: PGM1 HGNC NCBI

Linked Data

gnomAD v4: 1-63629430-T-C
MyVariant Identifiers: chr1:g.64095101T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629430T>C , CM000663.2:g.63629430T>C GRCh38
NC_000001.10:g.64095101T>C , CM000663.1:g.64095101T>C GRCh37
NC_000001.9:g.63867689T>C NCBI36
NG_016966.1:g.41155T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.252T>C MANE Select ENSP00000360125.3:p.Gly84=
ENST00000650546.1:c.252T>C ENSP00000497812.1:p.Gly84=
ENST00000371083.4:c.306T>C ENSP00000360124.4:p.Gly102=
ENST00000371084.7:c.252T>C ENSP00000360125.3:p.Gly84=
ENST00000540265.5:c.-340T>C ENSP00000443449.1:n.-340T>C
NM_001172818.1:c.306T>C NP_001166289.1:p.Gly102=
NM_001172819.1:c.-340T>C NP_001166290.1:n.-340T>C
NM_002633.2:c.252T>C NP_002624.2:p.Gly84=
NM_002633.3:c.252T>C MANE Select NP_002624.2:p.Gly84=
NM_001172819.2:c.-340T>C NP_001166290.1:n.-340T>C