Canonical Allele Identifier: CA404317601
Community Standard Title: NM_000159.4(GCDH):c.463T>C (p.Tyr155His)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12893611T>C , CM000681.2:g.12893611T>C GRCh38
NC_000019.9:g.13004425T>C , CM000681.1:g.13004425T>C GRCh37
NC_000019.8:g.12865425T>C NCBI36
NG_009292.1:g.7452T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.463T>C MANE Select NP_000150.1:p.Tyr155His
ENST00000222214.10:c.463T>C MANE Select ENSP00000222214.4:p.Tyr155His
NM_000159.3:c.463T>C NP_000150.1:p.Tyr155His
NM_013976.3:c.463T>C NP_039663.1:p.Tyr155His
NM_013976.4:c.463T>C NP_039663.1:p.Tyr155His
NM_013976.5:c.463T>C NP_039663.1:p.Tyr155His
NR_102316.1:n.626T>C
NR_102317.1:n.879T>C
ENST00000222214.9:c.463T>C ENSP00000222214.4:p.Tyr155His
ENST00000421816.6:n.441T>C
ENST00000585420.5:n.828T>C
ENST00000587832.5:n.520T>C
ENST00000588905.5:c.427T>C ENSP00000465770.1:p.Tyr143His
ENST00000589039.5:c.400T>C ENSP00000465618.1:p.Tyr134His
ENST00000590530.5:c.518T>C ENSP00000468452.1:p.Leu173Pro
ENST00000590627.5:n.828T>C
ENST00000591043.1:n.499T>C
ENST00000591470.5:c.463T>C ENSP00000466845.1:p.Tyr155His
XM_006722721.2:c.463T>C XP_006722784.1:p.Tyr155His
XM_011527899.1:c.463T>C XP_011526201.1:p.Tyr155His
XM_011527899.2:c.463T>C XP_011526201.1:p.Tyr155His
XM_011527900.1:c.463T>C XP_011526202.1:p.Tyr155His
XM_011527900.2:c.463T>C XP_011526202.1:p.Tyr155His
XM_017026580.1:c.463T>C XP_016882069.1:p.Tyr155His