Canonical Allele Identifier: CA389787304

Gene: GCH1

Linked Data

• dbSNP Id: rs2039633853
• gnomAD v3: 14-54845790-C-T
• gnomAD v4: 14-54845790-C-T
• MyVariant Identifiers: chr14:g.55312508C>T (hg19) ; chr14:g.54845790C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845790C>T , CM000676.2:g.54845790C>T	GRCh38
NC_000014.8:g.55312508C>T , CM000676.1:g.55312508C>T	GRCh37
NC_000014.7:g.54382258C>T	NCBI36
NG_008647.1:g.62035G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.604G>A MANE Select	ENSP00000419045.2:p.Val202Ile
ENST00000254299.8:n.752G>A
ENST00000395514.5:c.604G>A	ENSP00000378890.1:p.Val202Ile
ENST00000395521.6:n.293-2736G>A
ENST00000491895.6:c.604G>A	ENSP00000419045.2:p.Val202Ile
ENST00000536224.2:c.604G>A	ENSP00000445246.2:p.Val202Ile
ENST00000543643.6:c.604G>A	ENSP00000444011.2:p.Val202Ile
ENST00000622544.4:c.604G>A	ENSP00000477796.1:p.Val202Ile
NM_000161.2:c.604G>A	NP_000152.1:p.Val202Ile
NM_001024024.1:c.604G>A	NP_001019195.1:p.Val202Ile
NM_001024070.1:c.604G>A	NP_001019241.1:p.Val202Ile
NM_001024071.1:c.604G>A	NP_001019242.1:p.Val202Ile
XM_005267530.1:c.604G>A	XP_005267587.1:p.Val202Ile
XM_017021218.1:c.310G>A	XP_016876707.1:p.Val104Ile
NM_000161.3:c.604G>A MANE Select	NP_000152.1:p.Val202Ile
NM_001024070.2:c.604G>A	NP_001019241.1:p.Val202Ile
NM_001024071.2:c.604G>A	NP_001019242.1:p.Val202Ile
NM_001024024.2:c.604G>A	NP_001019195.1:p.Val202Ile