Canonical Allele Identifier: CA4980370

Gene: GLDC

Linked Data

• dbSNP Id: rs778267718
• ExAC: 9:6556197 G / A
• MyVariant Identifiers: chr9:g.6556197G>A (hg19) ; chr9:g.6556197G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556197G>A , CM000671.2:g.6556197G>A	GRCh38
NC_000009.11:g.6556197G>A , CM000671.1:g.6556197G>A	GRCh37
NC_000009.10:g.6546197G>A	NCBI36
NG_016397.1:g.94496C>T , LRG_643:g.94496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2158C>T MANE Select	ENSP00000370737.4:p.His720Tyr
ENST00000638233.1:n.593C>T
ENST00000638661.1:c.358C>T	ENSP00000491369.1:p.His120Tyr
ENST00000638694.1:n.345C>T
ENST00000639318.1:c.358C>T	ENSP00000491932.1:p.His120Tyr
ENST00000639364.1:n.1858C>T
ENST00000639443.1:n.1726C>T
ENST00000639954.1:n.1866C>T
ENST00000640505.1:n.397C>T
ENST00000321612.6:c.2158C>T	ENSP00000370737.3:p.His720Tyr
NM_000170.2:c.2158C>T , LRG_643t1:c.2158C>T	NP_000161.2:p.His720Tyr
NM_000170.3:c.2158C>T MANE Select	NP_000161.2:p.His720Tyr