Canonical Allele Identifier: CA372882222

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6558678G>A (hg19) ; chr9:g.6558678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558678G>A , CM000671.2:g.6558678G>A	GRCh38
NC_000009.11:g.6558678G>A , CM000671.1:g.6558678G>A	GRCh37
NC_000009.10:g.6548678G>A	NCBI36
NG_016397.1:g.92015C>T , LRG_643:g.92015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1933C>T MANE Select	ENSP00000370737.4:p.Leu645Phe
ENST00000460457.2:n.93C>T
ENST00000638233.1:n.368C>T
ENST00000638661.1:c.133C>T	ENSP00000491369.1:p.Leu45Phe
ENST00000638694.1:n.120C>T
ENST00000639318.1:c.133C>T	ENSP00000491932.1:p.Leu45Phe
ENST00000639364.1:n.1633C>T
ENST00000639443.1:n.1501C>T
ENST00000639954.1:n.1641C>T
ENST00000640208.1:c.133C>T	ENSP00000491895.1:p.Leu45Phe
ENST00000640505.1:n.172C>T
ENST00000640592.1:n.1816C>T
ENST00000321612.6:c.1933C>T	ENSP00000370737.3:p.Leu645Phe
ENST00000460457.1:n.72C>T
NM_000170.2:c.1933C>T , LRG_643t1:c.1933C>T	NP_000161.2:p.Leu645Phe
NM_000170.3:c.1933C>T MANE Select	NP_000161.2:p.Leu645Phe