Canonical Allele Identifier: CA372881192

Gene: GLDC

Linked Data

• dbSNP Id: rs1817626324
• MyVariant Identifiers: chr9:g.6556169G>C (hg19) ; chr9:g.6556169G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556169G>C , CM000671.2:g.6556169G>C	GRCh38
NC_000009.11:g.6556169G>C , CM000671.1:g.6556169G>C	GRCh37
NC_000009.10:g.6546169G>C	NCBI36
NG_016397.1:g.94524C>G , LRG_643:g.94524C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2186C>G MANE Select	ENSP00000370737.4:p.Ala729Gly
ENST00000638233.1:n.621C>G
ENST00000638661.1:c.386C>G	ENSP00000491369.1:p.Ala129Gly
ENST00000638694.1:n.373C>G
ENST00000639318.1:c.386C>G	ENSP00000491932.1:p.Ala129Gly
ENST00000639364.1:n.1886C>G
ENST00000639443.1:n.1754C>G
ENST00000639954.1:n.1894C>G
ENST00000640505.1:n.425C>G
ENST00000321612.6:c.2186C>G	ENSP00000370737.3:p.Ala729Gly
NM_000170.2:c.2186C>G , LRG_643t1:c.2186C>G	NP_000161.2:p.Ala729Gly
NM_000170.3:c.2186C>G MANE Select	NP_000161.2:p.Ala729Gly