Canonical Allele Identifier: CA889660

Gene: PGM1

Linked Data

• ClinVar Variation Id: 297878
• ClinVar RCV Id: RCV000319337 ; RCV000373876 ; RCV000445024 ; RCV003884452
• dbSNP Id: rs145807501
• ExAC: 1:64101931 T / C
• gnomAD v2: 1-64101931-T-C
• gnomAD v3: 1-63636260-T-C
• gnomAD v4: 1-63636260-T-C
• MyVariant Identifiers: chr1:g.64101931T>C (hg19) ; chr1:g.63636260T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63636260T>C , CM000663.2:g.63636260T>C	GRCh38
NC_000001.10:g.64101931T>C , CM000663.1:g.64101931T>C	GRCh37
NC_000001.9:g.63874519T>C	NCBI36
NG_016966.1:g.47985T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.900T>C MANE Select	ENSP00000360125.3:p.His300=
ENST00000650546.1:c.900T>C	ENSP00000497812.1:p.His300=
ENST00000371083.4:c.954T>C	ENSP00000360124.4:p.His318=
ENST00000371084.7:c.900T>C	ENSP00000360125.3:p.His300=
ENST00000540265.5:c.309T>C	ENSP00000443449.1:p.His103=
NM_001172818.1:c.954T>C	NP_001166289.1:p.His318=
NM_001172819.1:c.309T>C	NP_001166290.1:p.His103=
NM_002633.2:c.900T>C	NP_002624.2:p.His300=
NM_002633.3:c.900T>C MANE Select	NP_002624.2:p.His300=
NM_001172819.2:c.309T>C	NP_001166290.1:p.His103=