Canonical Allele Identifier: CA372881823

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6558569A>C (hg19) ; chr9:g.6558569A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558569A>C , CM000671.2:g.6558569A>C	GRCh38
NC_000009.11:g.6558569A>C , CM000671.1:g.6558569A>C	GRCh37
NC_000009.10:g.6548569A>C	NCBI36
NG_016397.1:g.92124T>G , LRG_643:g.92124T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2042T>G MANE Select	ENSP00000370737.4:p.Leu681Arg
ENST00000460457.2:n.202T>G
ENST00000638233.1:n.477T>G
ENST00000638661.1:c.242T>G	ENSP00000491369.1:p.Leu81Arg
ENST00000638694.1:n.229T>G
ENST00000639318.1:c.242T>G	ENSP00000491932.1:p.Leu81Arg
ENST00000639364.1:n.1742T>G
ENST00000639443.1:n.1610T>G
ENST00000639954.1:n.1750T>G
ENST00000640208.1:c.242T>G	ENSP00000491895.1:p.Leu81Arg
ENST00000640505.1:n.281T>G
ENST00000640592.1:n.1925T>G
ENST00000321612.6:c.2042T>G	ENSP00000370737.3:p.Leu681Arg
ENST00000460457.1:n.181T>G
NM_000170.2:c.2042T>G , LRG_643t1:c.2042T>G	NP_000161.2:p.Leu681Arg
NM_000170.3:c.2042T>G MANE Select	NP_000161.2:p.Leu681Arg