Canonical Allele Identifier: CA4980435

Gene: GLDC

Linked Data

• dbSNP Id: rs566453582
• ExAC: 9:6558578 G / A
• gnomAD v2: 9-6558578-G-A
• gnomAD v3: 9-6558578-G-A
• gnomAD v4: 9-6558578-G-A
• MyVariant Identifiers: chr9:g.6558578G>A (hg19) ; chr9:g.6558578G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558578G>A , CM000671.2:g.6558578G>A	GRCh38
NC_000009.11:g.6558578G>A , CM000671.1:g.6558578G>A	GRCh37
NC_000009.10:g.6548578G>A	NCBI36
NG_016397.1:g.92115C>T , LRG_643:g.92115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2033C>T MANE Select	ENSP00000370737.4:p.Ala678Val
ENST00000460457.2:n.193C>T
ENST00000638233.1:n.468C>T
ENST00000638661.1:c.233C>T	ENSP00000491369.1:p.Ala78Val
ENST00000638694.1:n.220C>T
ENST00000639318.1:c.233C>T	ENSP00000491932.1:p.Ala78Val
ENST00000639364.1:n.1733C>T
ENST00000639443.1:n.1601C>T
ENST00000639954.1:n.1741C>T
ENST00000640208.1:c.233C>T	ENSP00000491895.1:p.Ala78Val
ENST00000640505.1:n.272C>T
ENST00000640592.1:n.1916C>T
ENST00000321612.6:c.2033C>T	ENSP00000370737.3:p.Ala678Val
ENST00000460457.1:n.172C>T
NM_000170.2:c.2033C>T , LRG_643t1:c.2033C>T	NP_000161.2:p.Ala678Val
NM_000170.3:c.2033C>T MANE Select	NP_000161.2:p.Ala678Val