Canonical Allele Identifier: CA389787314

Gene: GCH1

Linked Data

• gnomAD v4: 14-54845796-C-T
• MyVariant Identifiers: chr14:g.55312514C>T (hg19) ; chr14:g.54845796C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845796C>T , CM000676.2:g.54845796C>T	GRCh38
NC_000014.8:g.55312514C>T , CM000676.1:g.55312514C>T	GRCh37
NC_000014.7:g.54382264C>T	NCBI36
NG_008647.1:g.62029G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.598G>A MANE Select	ENSP00000419045.2:p.Ala200Thr
ENST00000254299.8:n.746G>A
ENST00000395514.5:c.598G>A	ENSP00000378890.1:p.Ala200Thr
ENST00000395521.6:n.293-2742G>A
ENST00000491895.6:c.598G>A	ENSP00000419045.2:p.Ala200Thr
ENST00000536224.2:c.598G>A	ENSP00000445246.2:p.Ala200Thr
ENST00000543643.6:c.598G>A	ENSP00000444011.2:p.Ala200Thr
ENST00000622544.4:c.598G>A	ENSP00000477796.1:p.Ala200Thr
NM_000161.2:c.598G>A	NP_000152.1:p.Ala200Thr
NM_001024024.1:c.598G>A	NP_001019195.1:p.Ala200Thr
NM_001024070.1:c.598G>A	NP_001019241.1:p.Ala200Thr
NM_001024071.1:c.598G>A	NP_001019242.1:p.Ala200Thr
XM_005267530.1:c.598G>A	XP_005267587.1:p.Ala200Thr
XM_017021218.1:c.304G>A	XP_016876707.1:p.Ala102Thr
NM_000161.3:c.598G>A MANE Select	NP_000152.1:p.Ala200Thr
NM_001024070.2:c.598G>A	NP_001019241.1:p.Ala200Thr
NM_001024071.2:c.598G>A	NP_001019242.1:p.Ala200Thr
NM_001024024.2:c.598G>A	NP_001019195.1:p.Ala200Thr