Canonical Allele Identifier: CA372881813

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6558564C>G (hg19) ; chr9:g.6558564C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558564C>G , CM000671.2:g.6558564C>G	GRCh38
NC_000009.11:g.6558564C>G , CM000671.1:g.6558564C>G	GRCh37
NC_000009.10:g.6548564C>G	NCBI36
NG_016397.1:g.92129G>C , LRG_643:g.92129G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2047G>C MANE Select	ENSP00000370737.4:p.Ala683Pro
ENST00000460457.2:n.207G>C
ENST00000638233.1:n.482G>C
ENST00000638661.1:c.247G>C	ENSP00000491369.1:p.Ala83Pro
ENST00000638694.1:n.234G>C
ENST00000639318.1:c.247G>C	ENSP00000491932.1:p.Ala83Pro
ENST00000639364.1:n.1747G>C
ENST00000639443.1:n.1615G>C
ENST00000639954.1:n.1755G>C
ENST00000640208.1:c.247G>C	ENSP00000491895.1:p.Ala83Pro
ENST00000640505.1:n.286G>C
ENST00000640592.1:n.1930G>C
ENST00000321612.6:c.2047G>C	ENSP00000370737.3:p.Ala683Pro
ENST00000460457.1:n.186G>C
NM_000170.2:c.2047G>C , LRG_643t1:c.2047G>C	NP_000161.2:p.Ala683Pro
NM_000170.3:c.2047G>C MANE Select	NP_000161.2:p.Ala683Pro