Canonical Allele Identifier: CA4980402

Gene: GLDC

Linked Data

• dbSNP Id: rs367988640
• ExAC: 9:6556302 C / G
• gnomAD v2: 9-6556302-C-G
• MyVariant Identifiers: chr9:g.6556302C>G (hg19) ; chr9:g.6556302C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556302C>G , CM000671.2:g.6556302C>G	GRCh38
NC_000009.11:g.6556302C>G , CM000671.1:g.6556302C>G	GRCh37
NC_000009.10:g.6546302C>G	NCBI36
NG_016397.1:g.94391G>C , LRG_643:g.94391G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2053G>C MANE Select	ENSP00000370737.4:p.Val685Leu
ENST00000638233.1:n.488G>C
ENST00000638661.1:c.253G>C	ENSP00000491369.1:p.Val85Leu
ENST00000638694.1:n.240G>C
ENST00000639318.1:c.253G>C	ENSP00000491932.1:p.Val85Leu
ENST00000639364.1:n.1753G>C
ENST00000639443.1:n.1621G>C
ENST00000639954.1:n.1761G>C
ENST00000640505.1:n.292G>C
ENST00000321612.6:c.2053G>C	ENSP00000370737.3:p.Val685Leu
NM_000170.2:c.2053G>C , LRG_643t1:c.2053G>C	NP_000161.2:p.Val685Leu
NM_000170.3:c.2053G>C MANE Select	NP_000161.2:p.Val685Leu