Canonical Allele Identifier: CA1978918650

Gene: PYGM

Linked Data

• dbSNP Id: rs569602

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747034A>C , CM000673.2:g.64747034A>C	GRCh38
NC_000011.9:g.64514506A>C , CM000673.1:g.64514506A>C	GRCh37
NC_000011.8:g.64271082A>C	NCBI36
NG_007574.1:g.3423T>G , LRG_100:g.3423T>G
NG_013018.1:g.18682T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2313-47T>G MANE Select	ENSP00000164139.3:n.2313-47T>G
ENST00000164139.3:c.2313-47T>G	ENSP00000164139.3:n.2313-47T>G
ENST00000377432.7:c.2049-47T>G	ENSP00000366650.3:n.2049-47T>G
ENST00000483742.1:n.1666-47T>G
NM_001164716.1:c.2049-47T>G	NP_001158188.1:n.2049-47T>G
NM_005609.2:c.2313-47T>G	NP_005600.1:n.2313-47T>G
NM_005609.3:c.2313-47T>G	NP_005600.1:n.2313-47T>G
NM_005609.4:c.2313-47T>G MANE Select	NP_005600.1:n.2313-47T>G