Canonical Allele Identifier: CA7193595

Gene: GCH1

Linked Data

• dbSNP Id: rs748275796
• ExAC: 14:55332030 CAA / C
• gnomAD v2: 14-55332030-CAA-C
• gnomAD v4: 14-54865312-CAA-C
• MyVariant Identifiers: chr14:g.55332031_55332032del (hg19) ; chr14:g.54865313_54865314del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54865314_54865315del , CM000676.2:g.54865314_54865315del	GRCh38
NC_000014.8:g.55332032_55332033del , CM000676.1:g.55332032_55332033del	GRCh37
NC_000014.7:g.54401782_54401783del	NCBI36
NG_008647.1:g.42511_42512del

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.453+13_453+14del MANE Select	ENSP00000419045.2:n.453+13_453+14del
ENST00000254299.8:n.601+13_601+14del
ENST00000395514.5:c.453+13_453+14del	ENSP00000378890.1:n.453+13_453+14del
ENST00000395521.6:n.236+13_236+14del
ENST00000491895.6:c.453+13_453+14del	ENSP00000419045.2:n.453+13_453+14del
ENST00000536224.2:c.453+13_453+14del	ENSP00000445246.2:n.453+13_453+14del
ENST00000543643.6:c.453+13_453+14del	ENSP00000444011.2:n.453+13_453+14del
ENST00000622544.4:c.453+13_453+14del	ENSP00000477796.1:n.453+13_453+14del
NM_000161.2:c.453+13_453+14del	NP_000152.1:n.453+13_453+14del
NM_001024024.1:c.453+13_453+14del	NP_001019195.1:n.453+13_453+14del
NM_001024070.1:c.453+13_453+14del	NP_001019241.1:n.453+13_453+14del
NM_001024071.1:c.453+13_453+14del	NP_001019242.1:n.453+13_453+14del
XM_005267530.1:c.453+13_453+14del	XP_005267587.1:n.453+13_453+14del
XM_011536643.1:c.453+13_453+14del	XP_011534945.1:n.453+13_453+14del
XM_017021218.1:c.159+13_159+14del	XP_016876707.1:n.159+13_159+14del
NM_000161.3:c.453+13_453+14del MANE Select	NP_000152.1:n.453+13_453+14del
NM_001024070.2:c.453+13_453+14del	NP_001019241.1:n.453+13_453+14del
NM_001024071.2:c.453+13_453+14del	NP_001019242.1:n.453+13_453+14del
NM_001024024.2:c.453+13_453+14del	NP_001019195.1:n.453+13_453+14del