Canonical Allele Identifier: CA372881885

Gene: GLDC

Linked Data

• gnomAD v4: 9-6558599-T-A
• MyVariant Identifiers: chr9:g.6558599T>A (hg19) ; chr9:g.6558599T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558599T>A , CM000671.2:g.6558599T>A	GRCh38
NC_000009.11:g.6558599T>A , CM000671.1:g.6558599T>A	GRCh37
NC_000009.10:g.6548599T>A	NCBI36
NG_016397.1:g.92094A>T , LRG_643:g.92094A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2012A>T MANE Select	ENSP00000370737.4:p.Asp671Val
ENST00000460457.2:n.172A>T
ENST00000638233.1:n.447A>T
ENST00000638661.1:c.212A>T	ENSP00000491369.1:p.Asp71Val
ENST00000638694.1:n.199A>T
ENST00000639318.1:c.212A>T	ENSP00000491932.1:p.Asp71Val
ENST00000639364.1:n.1712A>T
ENST00000639443.1:n.1580A>T
ENST00000639954.1:n.1720A>T
ENST00000640208.1:c.212A>T	ENSP00000491895.1:p.Asp71Val
ENST00000640505.1:n.251A>T
ENST00000640592.1:n.1895A>T
ENST00000321612.6:c.2012A>T	ENSP00000370737.3:p.Asp671Val
ENST00000460457.1:n.151A>T
NM_000170.2:c.2012A>T , LRG_643t1:c.2012A>T	NP_000161.2:p.Asp671Val
NM_000170.3:c.2012A>T MANE Select	NP_000161.2:p.Asp671Val