Canonical Allele Identifier: CA372894400

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6595111C>G (hg19) ; chr9:g.6595111C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595111C>G , CM000671.2:g.6595111C>G	GRCh38
NC_000009.11:g.6595111C>G , CM000671.1:g.6595111C>G	GRCh37
NC_000009.10:g.6585111C>G	NCBI36
NG_016397.1:g.55582G>C , LRG_643:g.55582G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1164G>C MANE Select	ENSP00000370737.4:p.Leu388Phe
ENST00000638654.1:c.411G>C	ENSP00000491101.1:p.Leu137Phe
ENST00000639364.1:n.864G>C
ENST00000639443.1:n.732G>C
ENST00000639493.1:n.316G>C
ENST00000639954.1:n.872G>C
ENST00000640592.1:n.1047G>C
ENST00000321612.6:c.1164G>C	ENSP00000370737.3:p.Leu388Phe
ENST00000463305.1:n.248G>C
NM_000170.2:c.1164G>C , LRG_643t1:c.1164G>C	NP_000161.2:p.Leu388Phe
NM_000170.3:c.1164G>C MANE Select	NP_000161.2:p.Leu388Phe