Canonical Allele Identifier: CA993682301

Gene: GCDH

Linked Data

• gnomAD v3: 19-12896264-G-GTAT
• gnomAD v4: 19-12896264-G-GTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896264_12896265insTAT , CM000681.2:g.12896264_12896265insTAT	GRCh38
NC_000019.9:g.13007078_13007079insTAT , CM000681.1:g.13007078_13007079insTAT	GRCh37
NC_000019.8:g.12868078_12868079insTAT	NCBI36
NG_009292.1:g.10105_10106insTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.695_696insTAT MANE Select	ENSP00000222214.4:p.Cys232_Ile233insIle
ENST00000222214.9:c.695_696insTAT	ENSP00000222214.4:p.Cys232_Ile233insIle
ENST00000421816.6:n.673_674insTAT
ENST00000585420.5:n.1025_1026insTAT
ENST00000590530.5:c.*135_*136insTAT	ENSP00000468452.1:n.*135_*136insTAT
ENST00000591043.1:n.731_732insTAT
ENST00000591470.5:c.695_696insTAT	ENSP00000466845.1:p.Cys232_Ile233insIle
NM_000159.3:c.695_696insTAT	NP_000150.1:p.Cys232_Ile233insIle
NM_013976.3:c.695_696insTAT	NP_039663.1:p.Cys232_Ile233insIle
NR_102316.1:n.858_859insTAT
NR_102317.1:n.1076_1077insTAT
XM_006722721.2:c.695_696insTAT	XP_006722784.1:p.Cys232_Ile233insIle
XM_011527899.1:c.695_696insTAT	XP_011526201.1:p.Cys232_Ile233insIle
XM_011527900.1:c.695_696insTAT	XP_011526202.1:p.Cys232_Ile233insIle
XM_011527899.2:c.695_696insTAT	XP_011526201.1:p.Cys232_Ile233insIle
XM_011527900.2:c.695_696insTAT	XP_011526202.1:p.Cys232_Ile233insIle
XM_017026580.1:c.695_696insTAT	XP_016882069.1:p.Cys232_Ile233insIle
NM_000159.4:c.695_696insTAT MANE Select	NP_000150.1:p.Cys232_Ile233insIle
NM_013976.4:c.695_696insTAT	NP_039663.1:p.Cys232_Ile233insIle
NM_013976.5:c.695_696insTAT	NP_039663.1:p.Cys232_Ile233insIle