Canonical Allele Identifier: CA372882089

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6558657C>G (hg19) ; chr9:g.6558657C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558657C>G , CM000671.2:g.6558657C>G	GRCh38
NC_000009.11:g.6558657C>G , CM000671.1:g.6558657C>G	GRCh37
NC_000009.10:g.6548657C>G	NCBI36
NG_016397.1:g.92036G>C , LRG_643:g.92036G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1954G>C MANE Select	ENSP00000370737.4:p.Gly652Arg
ENST00000460457.2:n.114G>C
ENST00000638233.1:n.389G>C
ENST00000638661.1:c.154G>C	ENSP00000491369.1:p.Gly52Arg
ENST00000638694.1:n.141G>C
ENST00000639318.1:c.154G>C	ENSP00000491932.1:p.Gly52Arg
ENST00000639364.1:n.1654G>C
ENST00000639443.1:n.1522G>C
ENST00000639954.1:n.1662G>C
ENST00000640208.1:c.154G>C	ENSP00000491895.1:p.Gly52Arg
ENST00000640505.1:n.193G>C
ENST00000640592.1:n.1837G>C
ENST00000321612.6:c.1954G>C	ENSP00000370737.3:p.Gly652Arg
ENST00000460457.1:n.93G>C
NM_000170.2:c.1954G>C , LRG_643t1:c.1954G>C	NP_000161.2:p.Gly652Arg
NM_000170.3:c.1954G>C MANE Select	NP_000161.2:p.Gly652Arg