Canonical Allele Identifier: CA463585527

Gene: GLDC

Linked Data

• gnomAD v4: 9-6556201-A-G
• MyVariant Identifiers: chr9:g.6556201A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2154T>C MANE Select	ENSP00000370737.4:p.His718=
ENST00000638233.1:n.589T>C
ENST00000638661.1:c.354T>C	ENSP00000491369.1:p.His118=
ENST00000638694.1:n.341T>C
ENST00000639318.1:c.354T>C	ENSP00000491932.1:p.His118=
ENST00000639364.1:n.1854T>C
ENST00000639443.1:n.1722T>C
ENST00000639954.1:n.1862T>C
ENST00000640505.1:n.393T>C
ENST00000321612.6:c.2154T>C	ENSP00000370737.3:p.His718=
NM_000170.2:c.2154T>C , LRG_643t1:c.2154T>C	NP_000161.2:p.His718=
NM_000170.3:c.2154T>C MANE Select	NP_000161.2:p.His718=