Canonical Allele Identifier: CA1120888852

Gene: GLDC

Linked Data

• dbSNP Id: rs1003007981
• gnomAD v3: 9-6565267-T-G
• gnomAD v4: 9-6565267-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6565267T>G , CM000671.2:g.6565267T>G	GRCh38
NC_000009.11:g.6565267T>G , CM000671.1:g.6565267T>G	GRCh37
NC_000009.10:g.6555267T>G	NCBI36
NG_016397.1:g.85426A>C , LRG_643:g.85426A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1926+87A>C MANE Select	ENSP00000370737.4:n.1926+87A>C
ENST00000460457.2:n.86+87A>C
ENST00000638233.1:n.361+87A>C
ENST00000638661.1:c.126+87A>C	ENSP00000491369.1:n.126+87A>C
ENST00000638694.1:n.113+87A>C
ENST00000639318.1:c.126+87A>C	ENSP00000491932.1:n.126+87A>C
ENST00000639364.1:n.1626+87A>C
ENST00000639443.1:n.1494+87A>C
ENST00000639954.1:n.1634+87A>C
ENST00000640208.1:c.126+87A>C	ENSP00000491895.1:n.126+87A>C
ENST00000640505.1:n.165+87A>C
ENST00000640592.1:n.1809+87A>C
ENST00000321612.6:c.1926+87A>C	ENSP00000370737.3:n.1926+87A>C
ENST00000460457.1:n.65+87A>C
NM_000170.2:c.1926+87A>C , LRG_643t1:c.1926+87A>C	NP_000161.2:n.1926+87A>C
NM_000170.3:c.1926+87A>C MANE Select	NP_000161.2:n.1926+87A>C