Canonical Allele Identifier: CA4980426

Gene: GLDC

Linked Data

• dbSNP Id: rs1554644137
• ExAC: 9:6558545 G / A
• gnomAD v2: 9-6558545-G-A
• MyVariant Identifiers: chr9:g.6558545G>A (hg19) ; chr9:g.6558545_6558548delinsAAGA (hg19) ; chr9:g.6558545_6558548delinsAAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558545G>A , CM000671.2:g.6558545G>A	GRCh38
NC_000009.11:g.6558545G>A , CM000671.1:g.6558545G>A	GRCh37
NC_000009.10:g.6548545G>A	NCBI36
NG_016397.1:g.92148C>T , LRG_643:g.92148C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2052+14C>T MANE Select	ENSP00000370737.4:n.2052+14C>T
ENST00000460457.2:n.212+14C>T
ENST00000638233.1:n.487+14C>T
ENST00000638661.1:c.252+14C>T	ENSP00000491369.1:n.252+14C>T
ENST00000638694.1:n.239+14C>T
ENST00000639318.1:c.252+14C>T	ENSP00000491932.1:n.252+14C>T
ENST00000639364.1:n.1752+14C>T
ENST00000639443.1:n.1620+14C>T
ENST00000639954.1:n.1760+14C>T
ENST00000640208.1:c.266C>T	ENSP00000491895.1:p.Ser89Phe
ENST00000640505.1:n.291+14C>T
ENST00000640592.1:n.1949C>T
ENST00000321612.6:c.2052+14C>T	ENSP00000370737.3:n.2052+14C>T
ENST00000460457.1:n.205C>T
NM_000170.2:c.2052+14C>T , LRG_643t1:c.2052+14C>T	NP_000161.2:n.2052+14C>T
NM_000170.3:c.2052+14C>T MANE Select	NP_000161.2:n.2052+14C>T