Canonical Allele Identifier: CA404316751
Community Standard Title: NM_000159.4(GCDH):c.338A>G (p.Tyr113Cys)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12893486A>G , CM000681.2:g.12893486A>G GRCh38
NC_000019.9:g.13004300A>G , CM000681.1:g.13004300A>G GRCh37
NC_000019.8:g.12865300A>G NCBI36
NG_009292.1:g.7327A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.338A>G MANE Select NP_000150.1:p.Tyr113Cys
ENST00000222214.10:c.338A>G MANE Select ENSP00000222214.4:p.Tyr113Cys
NM_000159.3:c.338A>G NP_000150.1:p.Tyr113Cys
NM_013976.3:c.338A>G NP_039663.1:p.Tyr113Cys
NM_013976.4:c.338A>G NP_039663.1:p.Tyr113Cys
NM_013976.5:c.338A>G NP_039663.1:p.Tyr113Cys
NR_102316.1:n.501A>G
NR_102317.1:n.754A>G
ENST00000222214.9:c.338A>G ENSP00000222214.4:p.Tyr113Cys
ENST00000421816.6:n.316A>G
ENST00000585420.5:n.703A>G
ENST00000587072.1:c.386A>G ENSP00000468584.1:p.Tyr129Cys
ENST00000587832.5:n.395A>G
ENST00000588905.5:c.302A>G ENSP00000465770.1:p.Tyr101Cys
ENST00000589039.5:c.275A>G ENSP00000465618.1:p.Tyr92Cys
ENST00000590530.5:c.393A>G ENSP00000468452.1:p.Ile131Met
ENST00000590627.5:n.703A>G
ENST00000591043.1:n.374A>G
ENST00000591470.5:c.338A>G ENSP00000466845.1:p.Tyr113Cys
XM_006722721.2:c.338A>G XP_006722784.1:p.Tyr113Cys
XM_011527899.1:c.338A>G XP_011526201.1:p.Tyr113Cys
XM_011527899.2:c.338A>G XP_011526201.1:p.Tyr113Cys
XM_011527900.1:c.338A>G XP_011526202.1:p.Tyr113Cys
XM_011527900.2:c.338A>G XP_011526202.1:p.Tyr113Cys
XM_017026580.1:c.338A>G XP_016882069.1:p.Tyr113Cys