Canonical Allele Identifier: CA372882183

Gene: GLDC

Linked Data

• dbSNP Id: rs1817685299
• gnomAD v4: 9-6558672-G-A
• COSMIC: COSM2777851
• MyVariant Identifiers: chr9:g.6558672G>A (hg19) ; chr9:g.6558672G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558672G>A , CM000671.2:g.6558672G>A	GRCh38
NC_000009.11:g.6558672G>A , CM000671.1:g.6558672G>A	GRCh37
NC_000009.10:g.6548672G>A	NCBI36
NG_016397.1:g.92021C>T , LRG_643:g.92021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1939C>T MANE Select	ENSP00000370737.4:p.Pro647Ser
ENST00000460457.2:n.99C>T
ENST00000638233.1:n.374C>T
ENST00000638661.1:c.139C>T	ENSP00000491369.1:p.Pro47Ser
ENST00000638694.1:n.126C>T
ENST00000639318.1:c.139C>T	ENSP00000491932.1:p.Pro47Ser
ENST00000639364.1:n.1639C>T
ENST00000639443.1:n.1507C>T
ENST00000639954.1:n.1647C>T
ENST00000640208.1:c.139C>T	ENSP00000491895.1:p.Pro47Ser
ENST00000640505.1:n.178C>T
ENST00000640592.1:n.1822C>T
ENST00000321612.6:c.1939C>T	ENSP00000370737.3:p.Pro647Ser
ENST00000460457.1:n.78C>T
NM_000170.2:c.1939C>T , LRG_643t1:c.1939C>T	NP_000161.2:p.Pro647Ser
NM_000170.3:c.1939C>T MANE Select	NP_000161.2:p.Pro647Ser