Canonical Allele Identifier: CA614286121

Gene: GCH1

Linked Data

• dbSNP Id: rs1457400601
• gnomAD v2: 14-55331894-TAGTC-T
• gnomAD v3: 14-54865176-TAGTC-T
• gnomAD v4: 14-54865176-TAGTC-T
• MyVariant Identifiers: chr14:g.55331895_55331898del (hg19) ; chr14:g.54865177_54865180del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54865179_54865182del , CM000676.2:g.54865179_54865182del	GRCh38
NC_000014.8:g.55331897_55331900del , CM000676.1:g.55331897_55331900del	GRCh37
NC_000014.7:g.54401647_54401650del	NCBI36
NG_008647.1:g.42645_42648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.453+147_453+150del MANE Select	ENSP00000419045.2:n.453+147_453+150del
ENST00000254299.8:n.601+147_601+150del
ENST00000395514.5:c.453+147_453+150del	ENSP00000378890.1:n.453+147_453+150del
ENST00000395521.6:n.236+147_236+150del
ENST00000491895.6:c.453+147_453+150del	ENSP00000419045.2:n.453+147_453+150del
ENST00000536224.2:c.453+147_453+150del	ENSP00000445246.2:n.453+147_453+150del
ENST00000543643.6:c.453+147_453+150del	ENSP00000444011.2:n.453+147_453+150del
ENST00000622544.4:c.453+147_453+150del	ENSP00000477796.1:n.453+147_453+150del
NM_000161.2:c.453+147_453+150del	NP_000152.1:n.453+147_453+150del
NM_001024024.1:c.453+147_453+150del	NP_001019195.1:n.453+147_453+150del
NM_001024070.1:c.453+147_453+150del	NP_001019241.1:n.453+147_453+150del
NM_001024071.1:c.453+147_453+150del	NP_001019242.1:n.453+147_453+150del
XM_005267530.1:c.453+147_453+150del	XP_005267587.1:n.453+147_453+150del
XM_011536643.1:c.453+147_453+150del	XP_011534945.1:n.453+147_453+150del
XM_017021218.1:c.159+147_159+150del	XP_016876707.1:n.159+147_159+150del
NM_000161.3:c.453+147_453+150del MANE Select	NP_000152.1:n.453+147_453+150del
NM_001024070.2:c.453+147_453+150del	NP_001019241.1:n.453+147_453+150del
NM_001024071.2:c.453+147_453+150del	NP_001019242.1:n.453+147_453+150del
NM_001024024.2:c.453+147_453+150del	NP_001019195.1:n.453+147_453+150del