Canonical Allele Identifier: CA372882129

Gene: GLDC

Linked Data

• gnomAD v4: 9-6558663-C-G
• MyVariant Identifiers: chr9:g.6558663C>G (hg19) ; chr9:g.6558663C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558663C>G , CM000671.2:g.6558663C>G	GRCh38
NC_000009.11:g.6558663C>G , CM000671.1:g.6558663C>G	GRCh37
NC_000009.10:g.6548663C>G	NCBI36
NG_016397.1:g.92030G>C , LRG_643:g.92030G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1948G>C MANE Select	ENSP00000370737.4:p.Ala650Pro
ENST00000460457.2:n.108G>C
ENST00000638233.1:n.383G>C
ENST00000638661.1:c.148G>C	ENSP00000491369.1:p.Ala50Pro
ENST00000638694.1:n.135G>C
ENST00000639318.1:c.148G>C	ENSP00000491932.1:p.Ala50Pro
ENST00000639364.1:n.1648G>C
ENST00000639443.1:n.1516G>C
ENST00000639954.1:n.1656G>C
ENST00000640208.1:c.148G>C	ENSP00000491895.1:p.Ala50Pro
ENST00000640505.1:n.187G>C
ENST00000640592.1:n.1831G>C
ENST00000321612.6:c.1948G>C	ENSP00000370737.3:p.Ala650Pro
ENST00000460457.1:n.87G>C
NM_000170.2:c.1948G>C , LRG_643t1:c.1948G>C	NP_000161.2:p.Ala650Pro
NM_000170.3:c.1948G>C MANE Select	NP_000161.2:p.Ala650Pro