Canonical Allele Identifier: CA372882071

Gene: GLDC

Linked Data

• dbSNP Id: rs1817685011
• gnomAD v3: 9-6558654-T-G
• gnomAD v4: 9-6558654-T-G
• MyVariant Identifiers: chr9:g.6558654T>G (hg19) ; chr9:g.6558654T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558654T>G , CM000671.2:g.6558654T>G	GRCh38
NC_000009.11:g.6558654T>G , CM000671.1:g.6558654T>G	GRCh37
NC_000009.10:g.6548654T>G	NCBI36
NG_016397.1:g.92039A>C , LRG_643:g.92039A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1957A>C MANE Select	ENSP00000370737.4:p.Thr653Pro
ENST00000460457.2:n.117A>C
ENST00000638233.1:n.392A>C
ENST00000638661.1:c.157A>C	ENSP00000491369.1:p.Thr53Pro
ENST00000638694.1:n.144A>C
ENST00000639318.1:c.157A>C	ENSP00000491932.1:p.Thr53Pro
ENST00000639364.1:n.1657A>C
ENST00000639443.1:n.1525A>C
ENST00000639954.1:n.1665A>C
ENST00000640208.1:c.157A>C	ENSP00000491895.1:p.Thr53Pro
ENST00000640505.1:n.196A>C
ENST00000640592.1:n.1840A>C
ENST00000321612.6:c.1957A>C	ENSP00000370737.3:p.Thr653Pro
ENST00000460457.1:n.96A>C
NM_000170.2:c.1957A>C , LRG_643t1:c.1957A>C	NP_000161.2:p.Thr653Pro
NM_000170.3:c.1957A>C MANE Select	NP_000161.2:p.Thr653Pro