Canonical Allele Identifier: CA372881871

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6558594A>C (hg19) ; chr9:g.6558594A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558594A>C , CM000671.2:g.6558594A>C	GRCh38
NC_000009.11:g.6558594A>C , CM000671.1:g.6558594A>C	GRCh37
NC_000009.10:g.6548594A>C	NCBI36
NG_016397.1:g.92099T>G , LRG_643:g.92099T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2017T>G MANE Select	ENSP00000370737.4:p.Tyr673Asp
ENST00000460457.2:n.177T>G
ENST00000638233.1:n.452T>G
ENST00000638661.1:c.217T>G	ENSP00000491369.1:p.Tyr73Asp
ENST00000638694.1:n.204T>G
ENST00000639318.1:c.217T>G	ENSP00000491932.1:p.Tyr73Asp
ENST00000639364.1:n.1717T>G
ENST00000639443.1:n.1585T>G
ENST00000639954.1:n.1725T>G
ENST00000640208.1:c.217T>G	ENSP00000491895.1:p.Tyr73Asp
ENST00000640505.1:n.256T>G
ENST00000640592.1:n.1900T>G
ENST00000321612.6:c.2017T>G	ENSP00000370737.3:p.Tyr673Asp
ENST00000460457.1:n.156T>G
NM_000170.2:c.2017T>G , LRG_643t1:c.2017T>G	NP_000161.2:p.Tyr673Asp
NM_000170.3:c.2017T>G MANE Select	NP_000161.2:p.Tyr673Asp