Canonical Allele Identifier: CA188652625

Gene: GLDC

Linked Data

• dbSNP Id: rs757350939
• gnomAD v4: 9-6565278-G-C
• MyVariant Identifiers: chr9:g.6565278G>C (hg19) ; chr9:g.6565278G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6565278G>C , CM000671.2:g.6565278G>C	GRCh38
NC_000009.11:g.6565278G>C , CM000671.1:g.6565278G>C	GRCh37
NC_000009.10:g.6555278G>C	NCBI36
NG_016397.1:g.85415C>G , LRG_643:g.85415C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1926+76C>G MANE Select	ENSP00000370737.4:n.1926+76C>G
ENST00000460457.2:n.86+76C>G
ENST00000638233.1:n.361+76C>G
ENST00000638661.1:c.126+76C>G	ENSP00000491369.1:n.126+76C>G
ENST00000638694.1:n.113+76C>G
ENST00000639318.1:c.126+76C>G	ENSP00000491932.1:n.126+76C>G
ENST00000639364.1:n.1626+76C>G
ENST00000639443.1:n.1494+76C>G
ENST00000639954.1:n.1634+76C>G
ENST00000640208.1:c.126+76C>G	ENSP00000491895.1:n.126+76C>G
ENST00000640505.1:n.165+76C>G
ENST00000640592.1:n.1809+76C>G
ENST00000321612.6:c.1926+76C>G	ENSP00000370737.3:n.1926+76C>G
ENST00000460457.1:n.65+76C>G
NM_000170.2:c.1926+76C>G , LRG_643t1:c.1926+76C>G	NP_000161.2:n.1926+76C>G
NM_000170.3:c.1926+76C>G MANE Select	NP_000161.2:n.1926+76C>G