Canonical Allele Identifier: CA372882104
Community Standard Title: NM_000170.3(GLDC):c.1952A>T (p.His651Leu)
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6558659T>A , CM000671.2:g.6558659T>A GRCh38
NC_000009.11:g.6558659T>A , CM000671.1:g.6558659T>A GRCh37
NC_000009.10:g.6548659T>A NCBI36
NG_016397.1:g.92034A>T , LRG_643:g.92034A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000170.3:c.1952A>T MANE Select NP_000161.2:p.His651Leu
ENST00000321612.8:c.1952A>T MANE Select ENSP00000370737.4:p.His651Leu
NM_000170.2:c.1952A>T , LRG_643t1:c.1952A>T NP_000161.2:p.His651Leu
ENST00000321612.6:c.1952A>T ENSP00000370737.3:p.His651Leu
ENST00000460457.1:n.91A>T
ENST00000460457.2:n.112A>T
ENST00000638233.1:n.387A>T
ENST00000638661.1:c.152A>T ENSP00000491369.1:p.His51Leu
ENST00000638694.1:n.139A>T
ENST00000639318.1:c.152A>T ENSP00000491932.1:p.His51Leu
ENST00000639364.1:n.1652A>T
ENST00000639443.1:n.1520A>T
ENST00000639954.1:n.1660A>T
ENST00000640208.1:c.152A>T ENSP00000491895.1:p.His51Leu
ENST00000640505.1:n.191A>T
ENST00000640592.1:n.1835A>T