Canonical Allele Identifier: CA1120894819

Gene: GLDC

Linked Data

• dbSNP Id: rs1817081097
• gnomAD v3: 9-6534700-G-A
• gnomAD v4: 9-6534700-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6534700G>A , CM000671.2:g.6534700G>A	GRCh38
NC_000009.11:g.6534700G>A , CM000671.1:g.6534700G>A	GRCh37
NC_000009.10:g.6524700G>A	NCBI36
NG_016397.1:g.115993C>T , LRG_643:g.115993C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2919+8C>T MANE Select	ENSP00000370737.4:n.2919+8C>T
ENST00000638233.1:n.1354+8C>T
ENST00000638274.1:c.71+8C>T
ENST00000638661.1:c.1119+8C>T	ENSP00000491369.1:n.1119+8C>T
ENST00000638694.1:n.1106+8C>T
ENST00000639318.1:c.1023+8C>T	ENSP00000491932.1:n.1023+8C>T
ENST00000639364.1:n.2619+8C>T
ENST00000639443.1:n.2487+8C>T
ENST00000639461.1:n.2020+8C>T
ENST00000639639.1:c.621+8C>T	ENSP00000491312.1:n.621+8C>T
ENST00000639954.1:n.2627+8C>T
ENST00000640505.1:n.1158+8C>T
ENST00000321612.6:c.2919+8C>T	ENSP00000370737.3:n.2919+8C>T
ENST00000477960.1:n.500+8C>T
NM_000170.2:c.2919+8C>T , LRG_643t1:c.2919+8C>T	NP_000161.2:n.2919+8C>T
NM_000170.3:c.2919+8C>T MANE Select	NP_000161.2:n.2919+8C>T