Canonical Allele Identifier: CA7193535

Gene: GCH1

Linked Data

• ClinVar Variation Id: 1333858
• ClinVar RCV Id: RCV001809073 ; RCV001869592
• dbSNP Id: rs762208304
• ExAC: 14:55312541 C / T
• gnomAD v2: 14-55312541-C-T
• gnomAD v3: 14-54845823-C-T
• gnomAD v4: 14-54845823-C-T
• COSMIC: COSM1740103
• MyVariant Identifiers: chr14:g.55312541C>T (hg19) ; chr14:g.54845823C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845823C>T , CM000676.2:g.54845823C>T	GRCh38
NC_000014.8:g.55312541C>T , CM000676.1:g.55312541C>T	GRCh37
NC_000014.7:g.54382291C>T	NCBI36
NG_008647.1:g.62002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.571G>A MANE Select	ENSP00000419045.2:p.Val191Ile
ENST00000254299.8:n.719G>A
ENST00000395514.5:c.571G>A	ENSP00000378890.1:p.Val191Ile
ENST00000395521.6:n.293-2769G>A
ENST00000491895.6:c.571G>A	ENSP00000419045.2:p.Val191Ile
ENST00000536224.2:c.571G>A	ENSP00000445246.2:p.Val191Ile
ENST00000543643.6:c.571G>A	ENSP00000444011.2:p.Val191Ile
ENST00000622544.4:c.571G>A	ENSP00000477796.1:p.Val191Ile
NM_000161.2:c.571G>A	NP_000152.1:p.Val191Ile
NM_001024024.1:c.571G>A	NP_001019195.1:p.Val191Ile
NM_001024070.1:c.571G>A	NP_001019241.1:p.Val191Ile
NM_001024071.1:c.571G>A	NP_001019242.1:p.Val191Ile
XM_005267530.1:c.571G>A	XP_005267587.1:p.Val191Ile
XM_017021218.1:c.277G>A	XP_016876707.1:p.Val93Ile
NM_000161.3:c.571G>A MANE Select	NP_000152.1:p.Val191Ile
NM_001024070.2:c.571G>A	NP_001019241.1:p.Val191Ile
NM_001024071.2:c.571G>A	NP_001019242.1:p.Val191Ile
NM_001024024.2:c.571G>A	NP_001019195.1:p.Val191Ile