Canonical Allele Identifier: CA2782786468

Gene: GLDC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558556T>C , CM000671.2:g.6558556T>C	GRCh38
NC_000009.11:g.6558556T>C , CM000671.1:g.6558556T>C	GRCh37
NC_000009.10:g.6548556T>C	NCBI36
NG_016397.1:g.92137A>G , LRG_643:g.92137A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052+3A>G MANE Select	ENSP00000370737.4:n.2052+3A>G
ENST00000460457.2:n.212+3A>G
ENST00000638233.1:n.487+3A>G
ENST00000638661.1:c.252+3A>G	ENSP00000491369.1:n.252+3A>G
ENST00000638694.1:n.239+3A>G
ENST00000639318.1:c.252+3A>G	ENSP00000491932.1:n.252+3A>G
ENST00000639364.1:n.1752+3A>G
ENST00000639443.1:n.1620+3A>G
ENST00000639954.1:n.1760+3A>G
ENST00000640208.1:c.255A>G	ENSP00000491895.1:p.Val85=
ENST00000640505.1:n.291+3A>G
ENST00000640592.1:n.1938A>G
ENST00000321612.6:c.2052+3A>G	ENSP00000370737.3:n.2052+3A>G
ENST00000460457.1:n.194A>G
NM_000170.2:c.2052+3A>G , LRG_643t1:c.2052+3A>G	NP_000161.2:n.2052+3A>G
NM_000170.3:c.2052+3A>G MANE Select	NP_000161.2:n.2052+3A>G