Canonical Allele Identifier: CA1830493356
Community Standard Title: NM_000170.3(GLDC):c.2186C= (p.Ala729=)
Gene: GLDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556169G= , CM000671.2:g.6556169G= GRCh38
NC_000009.11:g.6556169G= , CM000671.1:g.6556169G= GRCh37
NC_000009.10:g.6546169G= NCBI36
NG_016397.1:g.94524C= , LRG_643:g.94524C=

Transcript Alleles

HGVS Amino-acid Change
NM_000170.3:c.2186C= MANE Select NP_000161.2:p.Ala729=
ENST00000321612.8:c.2186C= MANE Select ENSP00000370737.4:p.Ala729=
NM_000170.2:c.2186C= , LRG_643t1:c.2186C= NP_000161.2:p.Ala729=
ENST00000321612.6:c.2186C= ENSP00000370737.3:p.Ala729=
ENST00000638233.1:n.621C=
ENST00000638661.1:c.386C= ENSP00000491369.1:p.Ala129=
ENST00000638694.1:n.373C=
ENST00000639318.1:c.386C= ENSP00000491932.1:p.Ala129=
ENST00000639364.1:n.1886C=
ENST00000639443.1:n.1754C=
ENST00000639954.1:n.1894C=
ENST00000640505.1:n.425C=