Canonical Allele Identifier: CA211433

Gene: GCH1

Linked Data

• ClinVar Variation Id: 161247
• ClinVar RCV Id: RCV000148505 ; RCV000265088 ; RCV000362082 ; RCV000585377 ; RCV000687434 ; RCV003917463
• dbSNP Id: rs56127440
• ExAC: 14:55369176 G / A
• gnomAD v2: 14-55369176-G-A
• gnomAD v3: 14-54902458-G-A
• gnomAD v4: 14-54902458-G-A
• MyVariant Identifiers: chr14:g.55369176G>A (hg19) ; chr14:g.54902458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54902458G>A , CM000676.2:g.54902458G>A	GRCh38
NC_000014.8:g.55369176G>A , CM000676.1:g.55369176G>A	GRCh37
NC_000014.7:g.54438926G>A	NCBI36
NG_008647.1:g.5367C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.206C>T MANE Select	ENSP00000419045.2:p.Pro69Leu
ENST00000254299.8:n.354C>T
ENST00000395514.5:c.206C>T	ENSP00000378890.1:p.Pro69Leu
ENST00000491895.6:c.206C>T	ENSP00000419045.2:p.Pro69Leu
ENST00000536224.2:c.206C>T	ENSP00000445246.2:p.Pro69Leu
ENST00000543643.6:c.206C>T	ENSP00000444011.2:p.Pro69Leu
ENST00000622544.4:c.206C>T	ENSP00000477796.1:p.Pro69Leu
NM_000161.2:c.206C>T	NP_000152.1:p.Pro69Leu
NM_001024024.1:c.206C>T	NP_001019195.1:p.Pro69Leu
NM_001024070.1:c.206C>T	NP_001019241.1:p.Pro69Leu
NM_001024071.1:c.206C>T	NP_001019242.1:p.Pro69Leu
XM_005267530.1:c.206C>T	XP_005267587.1:p.Pro69Leu
XM_011536643.1:c.206C>T	XP_011534945.1:p.Pro69Leu
NM_000161.3:c.206C>T MANE Select	NP_000152.1:p.Pro69Leu
NM_001024070.2:c.206C>T	NP_001019241.1:p.Pro69Leu
NM_001024071.2:c.206C>T	NP_001019242.1:p.Pro69Leu
NM_001024024.2:c.206C>T	NP_001019195.1:p.Pro69Leu