Canonical Allele Identifier: CA254724
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9284
ClinVar RCV Id: RCV000009867
dbSNP Id: rs104894436

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54845808C>A , CM000676.2:g.54845808C>A GRCh38
NC_000014.8:g.55312526C>A , CM000676.1:g.55312526C>A GRCh37
NC_000014.7:g.54382276C>A NCBI36
NG_008647.1:g.62017G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395514.5:c.586G>T ENSP00000378890.1:p.Ala196Ser
ENST00000491895.6:c.586G>T ENSP00000419045.2:p.Ala196Ser
ENST00000536224.2:c.586G>T ENSP00000445246.2:p.Ala196Ser
ENST00000543643.6:c.586G>T ENSP00000444011.2:p.Ala196Ser
ENST00000622544.4:c.586G>T ENSP00000477796.1:p.Ala196Ser
NM_000161.2:c.586G>T NP_000152.1:p.Ala196Ser
NM_001024024.1:c.586G>T NP_001019195.1:p.Ala196Ser
NM_001024070.1:c.586G>T NP_001019241.1:p.Ala196Ser
NM_001024071.1:c.586G>T NP_001019242.1:p.Ala196Ser
XM_005267530.1:c.586G>T XP_005267587.1:p.Ala196Ser
XM_017021218.1:c.292G>T XP_016876707.1:p.Ala98Ser
NM_000161.3:c.586G>T MANE Select NP_000152.1:p.Ala196Ser
NM_001024070.2:c.586G>T NP_001019241.1:p.Ala196Ser
NM_001024071.2:c.586G>T NP_001019242.1:p.Ala196Ser
NM_001024024.2:c.586G>T NP_001019195.1:p.Ala196Ser