Canonical Allele Identifier: CA23820996

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63594249T>C , CM000663.2:g.63594249T>C	GRCh38
NC_000001.10:g.64059920T>C , CM000663.1:g.64059920T>C	GRCh37
NC_000001.9:g.63832508T>C	NCBI36
NG_016966.1:g.5974T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.246+515T>C MANE Select	ENSP00000360125.3:n.246+515T>C
ENST00000650546.1:c.246+515T>C	ENSP00000497812.1:n.246+515T>C
ENST00000371084.7:c.246+515T>C	ENSP00000360125.3:n.246+515T>C
ENST00000473117.2:n.73+105T>C
ENST00000540265.5:c.-346+105T>C	ENSP00000443449.1:n.-346+105T>C
NM_001172819.1:c.-346+105T>C	NP_001166290.1:n.-346+105T>C
NM_002633.2:c.246+515T>C	NP_002624.2:n.246+515T>C
NM_002633.3:c.246+515T>C MANE Select	NP_002624.2:n.246+515T>C
NM_001172819.2:c.-346+105T>C	NP_001166290.1:n.-346+105T>C