Canonical Allele Identifier: CA372894414

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6595119C>G (hg19) ; chr9:g.6595119C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595119C>G , CM000671.2:g.6595119C>G	GRCh38
NC_000009.11:g.6595119C>G , CM000671.1:g.6595119C>G	GRCh37
NC_000009.10:g.6585119C>G	NCBI36
NG_016397.1:g.55574G>C , LRG_643:g.55574G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1156G>C MANE Select	ENSP00000370737.4:p.Ala386Pro
ENST00000638654.1:c.403G>C	ENSP00000491101.1:p.Ala135Pro
ENST00000639364.1:n.856G>C
ENST00000639443.1:n.724G>C
ENST00000639493.1:n.308G>C
ENST00000639954.1:n.864G>C
ENST00000640592.1:n.1039G>C
ENST00000321612.6:c.1156G>C	ENSP00000370737.3:p.Ala386Pro
ENST00000463305.1:n.240G>C
NM_000170.2:c.1156G>C , LRG_643t1:c.1156G>C	NP_000161.2:p.Ala386Pro
NM_000170.3:c.1156G>C MANE Select	NP_000161.2:p.Ala386Pro