Canonical Allele Identifier: CA372881931

Gene: GLDC

Linked Data

• gnomAD v4: 9-6558621-T-G
• MyVariant Identifiers: chr9:g.6558621T>G (hg19) ; chr9:g.6558621T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558621T>G , CM000671.2:g.6558621T>G	GRCh38
NC_000009.11:g.6558621T>G , CM000671.1:g.6558621T>G	GRCh37
NC_000009.10:g.6548621T>G	NCBI36
NG_016397.1:g.92072A>C , LRG_643:g.92072A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1990A>C MANE Select	ENSP00000370737.4:p.Lys664Gln
ENST00000460457.2:n.150A>C
ENST00000638233.1:n.425A>C
ENST00000638661.1:c.190A>C	ENSP00000491369.1:p.Lys64Gln
ENST00000638694.1:n.177A>C
ENST00000639318.1:c.190A>C	ENSP00000491932.1:p.Lys64Gln
ENST00000639364.1:n.1690A>C
ENST00000639443.1:n.1558A>C
ENST00000639954.1:n.1698A>C
ENST00000640208.1:c.190A>C	ENSP00000491895.1:p.Lys64Gln
ENST00000640505.1:n.229A>C
ENST00000640592.1:n.1873A>C
ENST00000321612.6:c.1990A>C	ENSP00000370737.3:p.Lys664Gln
ENST00000460457.1:n.129A>C
NM_000170.2:c.1990A>C , LRG_643t1:c.1990A>C	NP_000161.2:p.Lys664Gln
NM_000170.3:c.1990A>C MANE Select	NP_000161.2:p.Lys664Gln