Canonical Allele Identifier: CA9234478
Gene: GCDH HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.12896307G>A
GRCh37 chr19:g.13007121G>A
gnomAD v2:
19:13007121 G / A
gnomAD v3:
19:12896307 G / A
gnomAD v4:
chr19-12896307-G-A
Joint Max Group AF 0.00363715 (EAS)
Genomes Max Group AF 0.00401113 (EAS)
Exomes Max Group AF 0.00342596 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896307G>A , CM000681.2:g.12896307G>A GRCh38
NC_000019.9:g.13007121G>A , CM000681.1:g.13007121G>A GRCh37
NC_000019.8:g.12868121G>A NCBI36
NG_009292.1:g.10148G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.738G>A MANE Select ENSP00000222214.4:p.Ser246=
ENST00000222214.9:c.738G>A ENSP00000222214.4:p.Ser246=
ENST00000421816.6:n.716G>A
ENST00000585420.5:n.1068G>A
ENST00000590530.5:c.*178G>A ENSP00000468452.1:n.*178G>A
ENST00000591043.1:n.774G>A
ENST00000591470.5:c.738G>A ENSP00000466845.1:p.Ser246=
NM_000159.3:c.738G>A NP_000150.1:p.Ser246=
NM_013976.3:c.738G>A NP_039663.1:p.Ser246=
NR_102316.1:n.901G>A
NR_102317.1:n.1119G>A
XM_006722721.2:c.738G>A XP_006722784.1:p.Ser246=
XM_011527899.1:c.738G>A XP_011526201.1:p.Ser246=
XM_011527900.1:c.738G>A XP_011526202.1:p.Ser246=
XM_011527899.2:c.738G>A XP_011526201.1:p.Ser246=
XM_011527900.2:c.738G>A XP_011526202.1:p.Ser246=
XM_017026580.1:c.738G>A XP_016882069.1:p.Ser246=
NM_000159.4:c.738G>A MANE Select NP_000150.1:p.Ser246=
NM_013976.4:c.738G>A NP_039663.1:p.Ser246=
NM_013976.5:c.738G>A NP_039663.1:p.Ser246=
Search 100 bp 5'
Search 100 bp 3'