Canonical Allele Identifier: CA4980440

Gene: GLDC

Linked Data

• dbSNP Id: rs372604935
• ExAC: 9:6558583 G / C
• gnomAD v2: 9-6558583-G-C
• gnomAD v4: 9-6558583-G-C
• MyVariant Identifiers: chr9:g.6558583G>C (hg19) ; chr9:g.6558583G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558583G>C , CM000671.2:g.6558583G>C	GRCh38
NC_000009.11:g.6558583G>C , CM000671.1:g.6558583G>C	GRCh37
NC_000009.10:g.6548583G>C	NCBI36
NG_016397.1:g.92110C>G , LRG_643:g.92110C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2028C>G MANE Select	ENSP00000370737.4:p.Ile676Met
ENST00000460457.2:n.188C>G
ENST00000638233.1:n.463C>G
ENST00000638661.1:c.228C>G	ENSP00000491369.1:p.Ile76Met
ENST00000638694.1:n.215C>G
ENST00000639318.1:c.228C>G	ENSP00000491932.1:p.Ile76Met
ENST00000639364.1:n.1728C>G
ENST00000639443.1:n.1596C>G
ENST00000639954.1:n.1736C>G
ENST00000640208.1:c.228C>G	ENSP00000491895.1:p.Ile76Met
ENST00000640505.1:n.267C>G
ENST00000640592.1:n.1911C>G
ENST00000321612.6:c.2028C>G	ENSP00000370737.3:p.Ile676Met
ENST00000460457.1:n.167C>G
NM_000170.2:c.2028C>G , LRG_643t1:c.2028C>G	NP_000161.2:p.Ile676Met
NM_000170.3:c.2028C>G MANE Select	NP_000161.2:p.Ile676Met