Canonical Allele Identifier: CA372882198

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6558674A>C (hg19) ; chr9:g.6558674A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558674A>C , CM000671.2:g.6558674A>C	GRCh38
NC_000009.11:g.6558674A>C , CM000671.1:g.6558674A>C	GRCh37
NC_000009.10:g.6548674A>C	NCBI36
NG_016397.1:g.92019T>G , LRG_643:g.92019T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1937T>G MANE Select	ENSP00000370737.4:p.Ile646Ser
ENST00000460457.2:n.97T>G
ENST00000638233.1:n.372T>G
ENST00000638661.1:c.137T>G	ENSP00000491369.1:p.Ile46Ser
ENST00000638694.1:n.124T>G
ENST00000639318.1:c.137T>G	ENSP00000491932.1:p.Ile46Ser
ENST00000639364.1:n.1637T>G
ENST00000639443.1:n.1505T>G
ENST00000639954.1:n.1645T>G
ENST00000640208.1:c.137T>G	ENSP00000491895.1:p.Ile46Ser
ENST00000640505.1:n.176T>G
ENST00000640592.1:n.1820T>G
ENST00000321612.6:c.1937T>G	ENSP00000370737.3:p.Ile646Ser
ENST00000460457.1:n.76T>G
NM_000170.2:c.1937T>G , LRG_643t1:c.1937T>G	NP_000161.2:p.Ile646Ser
NM_000170.3:c.1937T>G MANE Select	NP_000161.2:p.Ile646Ser