Canonical Allele Identifier: CA463596421
Gene: GLDC HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.6595023A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6595023A>G , CM000671.2:g.6595023A>G GRCh38
NC_000009.11:g.6595023A>G , CM000671.1:g.6595023A>G GRCh37
NC_000009.10:g.6585023A>G NCBI36
NG_016397.1:g.55670T>C , LRG_643:g.55670T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.1252T>C MANE Select ENSP00000370737.4:p.Leu418=
ENST00000639364.1:n.952T>C
ENST00000639443.1:n.820T>C
ENST00000639493.1:n.404T>C
ENST00000639954.1:n.960T>C
ENST00000640592.1:n.1135T>C
ENST00000321612.6:c.1252T>C ENSP00000370737.3:p.Leu418=
ENST00000463305.1:n.336T>C
NM_000170.2:c.1252T>C , LRG_643t1:c.1252T>C NP_000161.2:p.Leu418=
NM_000170.3:c.1252T>C MANE Select NP_000161.2:p.Leu418=