Canonical Allele Identifier: CA372881260

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6556201A>C (hg19) ; chr9:g.6556201A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556201A>C , CM000671.2:g.6556201A>C	GRCh38
NC_000009.11:g.6556201A>C , CM000671.1:g.6556201A>C	GRCh37
NC_000009.10:g.6546201A>C	NCBI36
NG_016397.1:g.94492T>G , LRG_643:g.94492T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2154T>G MANE Select	ENSP00000370737.4:p.His718Gln
ENST00000638233.1:n.589T>G
ENST00000638661.1:c.354T>G	ENSP00000491369.1:p.His118Gln
ENST00000638694.1:n.341T>G
ENST00000639318.1:c.354T>G	ENSP00000491932.1:p.His118Gln
ENST00000639364.1:n.1854T>G
ENST00000639443.1:n.1722T>G
ENST00000639954.1:n.1862T>G
ENST00000640505.1:n.393T>G
ENST00000321612.6:c.2154T>G	ENSP00000370737.3:p.His718Gln
NM_000170.2:c.2154T>G , LRG_643t1:c.2154T>G	NP_000161.2:p.His718Gln
NM_000170.3:c.2154T>G MANE Select	NP_000161.2:p.His718Gln