Canonical Allele Identifier: CA372881908

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6558612G>C (hg19) ; chr9:g.6558612G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558612G>C , CM000671.2:g.6558612G>C	GRCh38
NC_000009.11:g.6558612G>C , CM000671.1:g.6558612G>C	GRCh37
NC_000009.10:g.6548612G>C	NCBI36
NG_016397.1:g.92081C>G , LRG_643:g.92081C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1999C>G MANE Select	ENSP00000370737.4:p.Pro667Ala
ENST00000460457.2:n.159C>G
ENST00000638233.1:n.434C>G
ENST00000638661.1:c.199C>G	ENSP00000491369.1:p.Pro67Ala
ENST00000638694.1:n.186C>G
ENST00000639318.1:c.199C>G	ENSP00000491932.1:p.Pro67Ala
ENST00000639364.1:n.1699C>G
ENST00000639443.1:n.1567C>G
ENST00000639954.1:n.1707C>G
ENST00000640208.1:c.199C>G	ENSP00000491895.1:p.Pro67Ala
ENST00000640505.1:n.238C>G
ENST00000640592.1:n.1882C>G
ENST00000321612.6:c.1999C>G	ENSP00000370737.3:p.Pro667Ala
ENST00000460457.1:n.138C>G
NM_000170.2:c.1999C>G , LRG_643t1:c.1999C>G	NP_000161.2:p.Pro667Ala
NM_000170.3:c.1999C>G MANE Select	NP_000161.2:p.Pro667Ala