Canonical Allele Identifier: CA372881183

Gene: GLDC

Linked Data

• gnomAD v4: 9-6556165-A-C
• MyVariant Identifiers: chr9:g.6556165A>C (hg19) ; chr9:g.6556165A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556165A>C , CM000671.2:g.6556165A>C	GRCh38
NC_000009.11:g.6556165A>C , CM000671.1:g.6556165A>C	GRCh37
NC_000009.10:g.6546165A>C	NCBI36
NG_016397.1:g.94528T>G , LRG_643:g.94528T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2190T>G MANE Select	ENSP00000370737.4:p.Asn730Lys
ENST00000638233.1:n.625T>G
ENST00000638661.1:c.390T>G	ENSP00000491369.1:p.Asn130Lys
ENST00000638694.1:n.377T>G
ENST00000639318.1:c.390T>G	ENSP00000491932.1:p.Asn130Lys
ENST00000639364.1:n.1890T>G
ENST00000639443.1:n.1758T>G
ENST00000639954.1:n.1898T>G
ENST00000640505.1:n.429T>G
ENST00000321612.6:c.2190T>G	ENSP00000370737.3:p.Asn730Lys
NM_000170.2:c.2190T>G , LRG_643t1:c.2190T>G	NP_000161.2:p.Asn730Lys
NM_000170.3:c.2190T>G MANE Select	NP_000161.2:p.Asn730Lys