Canonical Allele Identifier: CA1978920687

Gene: PYGM

Linked Data

• dbSNP Id: rs2058369567
• gnomAD v4: 11-64753332-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753332G>C , CM000673.2:g.64753332G>C	GRCh38
NC_000011.9:g.64520804G>C , CM000673.1:g.64520804G>C	GRCh37
NC_000011.8:g.64277380G>C	NCBI36
NG_013018.1:g.12384C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1404-145C>G MANE Select	ENSP00000164139.3:n.1404-145C>G
ENST00000164139.3:c.1404-145C>G	ENSP00000164139.3:n.1404-145C>G
ENST00000377432.7:c.1140-145C>G	ENSP00000366650.3:n.1140-145C>G
NM_001164716.1:c.1140-145C>G	NP_001158188.1:n.1140-145C>G
NM_005609.2:c.1404-145C>G	NP_005600.1:n.1404-145C>G
NM_005609.3:c.1404-145C>G	NP_005600.1:n.1404-145C>G
NM_005609.4:c.1404-145C>G MANE Select	NP_005600.1:n.1404-145C>G