Canonical Allele Identifier: CA706934813
Gene: GCH1 HGNC NCBI

Linked Data

dbSNP Id: rs1472135322
gnomAD v3: 14-54888308-G-GCC
gnomAD v4: 14-54888308-G-GCC
MyVariant Identifiers: chr14:g.55355026_55355027insCC (hg19) chr14:g.54888308_54888309insCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54888308_54888309insCC , CM000676.2:g.54888308_54888309insCC GRCh38
NC_000014.8:g.55355026_55355027insCC , CM000676.1:g.55355026_55355027insCC GRCh37
NC_000014.7:g.54424776_54424777insCC NCBI36
NG_008647.1:g.19516_19517insGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000491895.7:c.343+14012_343+14013insGG MANE Select ENSP00000419045.2:n.343+14012_343+14013insGG
ENST00000254299.8:n.491+14012_491+14013insGG
ENST00000395514.5:c.343+14012_343+14013insGG ENSP00000378890.1:n.343+14012_343+14013insGG
ENST00000395521.6:n.126+14012_126+14013insGG
ENST00000491895.6:c.343+14012_343+14013insGG ENSP00000419045.2:n.343+14012_343+14013insGG
ENST00000536224.2:c.343+14012_343+14013insGG ENSP00000445246.2:n.343+14012_343+14013insGG
ENST00000543643.6:c.343+14012_343+14013insGG ENSP00000444011.2:n.343+14012_343+14013insGG
ENST00000622544.4:c.343+14012_343+14013insGG ENSP00000477796.1:n.343+14012_343+14013insGG
NM_000161.2:c.343+14012_343+14013insGG NP_000152.1:n.343+14012_343+14013insGG
NM_001024024.1:c.343+14012_343+14013insGG NP_001019195.1:n.343+14012_343+14013insGG
NM_001024070.1:c.343+14012_343+14013insGG NP_001019241.1:n.343+14012_343+14013insGG
NM_001024071.1:c.343+14012_343+14013insGG NP_001019242.1:n.343+14012_343+14013insGG
XM_005267530.1:c.343+14012_343+14013insGG XP_005267587.1:n.343+14012_343+14013insGG
XM_011536643.1:c.343+14012_343+14013insGG XP_011534945.1:n.343+14012_343+14013insGG
NM_000161.3:c.343+14012_343+14013insGG MANE Select NP_000152.1:n.343+14012_343+14013insGG
NM_001024070.2:c.343+14012_343+14013insGG NP_001019241.1:n.343+14012_343+14013insGG
NM_001024071.2:c.343+14012_343+14013insGG NP_001019242.1:n.343+14012_343+14013insGG
NM_001024024.2:c.343+14012_343+14013insGG NP_001019195.1:n.343+14012_343+14013insGG
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