Canonical Allele Identifier: CA260542671

Gene: GCH1

Linked Data

• dbSNP Id: rs964225589
• gnomAD v2: 14-55310470-A-G
• gnomAD v3: 14-54843752-A-G
• gnomAD v4: 14-54843752-A-G
• MyVariant Identifiers: chr14:g.55310470A>G (hg19) ; chr14:g.54843752A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843752A>G , CM000676.2:g.54843752A>G	GRCh38
NC_000014.8:g.55310470A>G , CM000676.1:g.55310470A>G	GRCh37
NC_000014.7:g.54380220A>G	NCBI36
NG_008647.1:g.64073T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*265T>C MANE Select	ENSP00000419045.2:n.*265T>C
ENST00000254299.8:n.1166T>C
ENST00000395514.5:c.*16+249T>C	ENSP00000378890.1:n.*16+249T>C
ENST00000395521.6:n.293-698T>C
ENST00000491895.6:c.*265T>C	ENSP00000419045.2:n.*265T>C
ENST00000536224.2:c.627-698T>C	ENSP00000445246.2:n.627-698T>C
ENST00000543643.6:c.*12+30T>C	ENSP00000444011.2:n.*12+30T>C
ENST00000622544.4:c.*265T>C	ENSP00000477796.1:n.*265T>C
NM_000161.2:c.*265T>C	NP_000152.1:n.*265T>C
NM_001024024.1:c.*16+249T>C	NP_001019195.1:n.*16+249T>C
NM_001024070.1:c.*12+30T>C	NP_001019241.1:n.*12+30T>C
NM_001024071.1:c.627-698T>C	NP_001019242.1:n.627-698T>C
XM_005267530.1:c.*42T>C	XP_005267587.1:n.*42T>C
XM_017021218.1:c.*265T>C	XP_016876707.1:n.*265T>C
NM_000161.3:c.*265T>C MANE Select	NP_000152.1:n.*265T>C
NM_001024070.2:c.*12+30T>C	NP_001019241.1:n.*12+30T>C
NM_001024071.2:c.627-698T>C	NP_001019242.1:n.627-698T>C
NM_001024024.2:c.*16+249T>C	NP_001019195.1:n.*16+249T>C