Canonical Allele Identifier: CA274064
Gene: GCDH HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.12896338C>T
GRCh37 chr19:g.13007152C>T
Revel Score:
ENST00000457854 0.910
ENST00000222214 (MANE Select) 0.910
ENST00000421816 0.910
ENST00000422947 0.910
gnomAD v2:
19:13007152 C / T
gnomAD v3:
19:12896338 C / T
gnomAD v4:
chr19-12896338-C-T
Joint Max Group AF 0.00002104 (SAS)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00002194 (SAS)
ClinVar RCV:
RCV000169226
RCV000480428
ClinVar Variation:
188872
dbSNP:
766518430
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896338C>T , CM000681.2:g.12896338C>T GRCh38
NC_000019.9:g.13007152C>T , CM000681.1:g.13007152C>T GRCh37
NC_000019.8:g.12868152C>T NCBI36
NG_009292.1:g.10179C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.769C>T MANE Select ENSP00000222214.4:p.Arg257Trp
ENST00000222214.9:c.769C>T ENSP00000222214.4:p.Arg257Trp
ENST00000421816.6:n.747C>T
ENST00000585420.5:n.1099C>T
ENST00000590530.5:c.*209C>T ENSP00000468452.1:n.*209C>T
ENST00000591043.1:n.805C>T
ENST00000591470.5:c.769C>T ENSP00000466845.1:p.Arg257Trp
NM_000159.3:c.769C>T NP_000150.1:p.Arg257Trp
NM_013976.3:c.769C>T NP_039663.1:p.Arg257Trp
NR_102316.1:n.932C>T
NR_102317.1:n.1150C>T
XM_006722721.2:c.769C>T XP_006722784.1:p.Arg257Trp
XM_011527899.1:c.769C>T XP_011526201.1:p.Arg257Trp
XM_011527900.1:c.769C>T XP_011526202.1:p.Arg257Trp
XM_011527899.2:c.769C>T XP_011526201.1:p.Arg257Trp
XM_011527900.2:c.769C>T XP_011526202.1:p.Arg257Trp
XM_017026580.1:c.769C>T XP_016882069.1:p.Arg257Trp
NM_000159.4:c.769C>T MANE Select NP_000150.1:p.Arg257Trp
NM_013976.4:c.769C>T NP_039663.1:p.Arg257Trp
NM_013976.5:c.769C>T NP_039663.1:p.Arg257Trp
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