Canonical Allele Identifier: CA372882239

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6558681A>G (hg19) ; chr9:g.6558681A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558681A>G , CM000671.2:g.6558681A>G	GRCh38
NC_000009.11:g.6558681A>G , CM000671.1:g.6558681A>G	GRCh37
NC_000009.10:g.6548681A>G	NCBI36
NG_016397.1:g.92012T>C , LRG_643:g.92012T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1930T>C MANE Select	ENSP00000370737.4:p.Cys644Arg
ENST00000460457.2:n.90T>C
ENST00000638233.1:n.365T>C
ENST00000638661.1:c.130T>C	ENSP00000491369.1:p.Cys44Arg
ENST00000638694.1:n.117T>C
ENST00000639318.1:c.130T>C	ENSP00000491932.1:p.Cys44Arg
ENST00000639364.1:n.1630T>C
ENST00000639443.1:n.1498T>C
ENST00000639954.1:n.1638T>C
ENST00000640208.1:c.130T>C	ENSP00000491895.1:p.Cys44Arg
ENST00000640505.1:n.169T>C
ENST00000640592.1:n.1813T>C
ENST00000321612.6:c.1930T>C	ENSP00000370737.3:p.Cys644Arg
ENST00000460457.1:n.69T>C
NM_000170.2:c.1930T>C , LRG_643t1:c.1930T>C	NP_000161.2:p.Cys644Arg
NM_000170.3:c.1930T>C MANE Select	NP_000161.2:p.Cys644Arg