Canonical Allele Identifier: CA7193654
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1187065
ClinVar RCV Id: RCV001546383 RCV002568967
dbSNP Id: rs770547722
ExAC: 14:55369143 C / T
gnomAD v2: 14-55369143-C-T
gnomAD v3: 14-54902425-C-T
gnomAD v4: 14-54902425-C-T
MyVariant Identifiers: chr14:g.55369143C>T (hg19) chr14:g.54902425C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54902425C>T , CM000676.2:g.54902425C>T GRCh38
NC_000014.8:g.55369143C>T , CM000676.1:g.55369143C>T GRCh37
NC_000014.7:g.54438893C>T NCBI36
NG_008647.1:g.5400G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000491895.7:c.239G>A MANE Select ENSP00000419045.2:p.Ser80Asn
ENST00000254299.8:n.387G>A
ENST00000395514.5:c.239G>A ENSP00000378890.1:p.Ser80Asn
ENST00000395521.6:n.22G>A
ENST00000491895.6:c.239G>A ENSP00000419045.2:p.Ser80Asn
ENST00000536224.2:c.239G>A ENSP00000445246.2:p.Ser80Asn
ENST00000543643.6:c.239G>A ENSP00000444011.2:p.Ser80Asn
ENST00000622544.4:c.239G>A ENSP00000477796.1:p.Ser80Asn
NM_000161.2:c.239G>A NP_000152.1:p.Ser80Asn
NM_001024024.1:c.239G>A NP_001019195.1:p.Ser80Asn
NM_001024070.1:c.239G>A NP_001019241.1:p.Ser80Asn
NM_001024071.1:c.239G>A NP_001019242.1:p.Ser80Asn
XM_005267530.1:c.239G>A XP_005267587.1:p.Ser80Asn
XM_011536643.1:c.239G>A XP_011534945.1:p.Ser80Asn
NM_000161.3:c.239G>A MANE Select NP_000152.1:p.Ser80Asn
NM_001024070.2:c.239G>A NP_001019241.1:p.Ser80Asn
NM_001024071.2:c.239G>A NP_001019242.1:p.Ser80Asn
NM_001024024.2:c.239G>A NP_001019195.1:p.Ser80Asn
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