Canonical Allele Identifier: CA963329923

Gene: GCH1

Linked Data

• dbSNP Id: rs2039630438
• gnomAD v3: 14-54845626-CTTTAGG-C
• gnomAD v4: 14-54845626-CTTTAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54845627_54845632del , CM000676.2:g.54845627_54845632del	GRCh38
NC_000014.8:g.55312345_55312350del , CM000676.1:g.55312345_55312350del	GRCh37
NC_000014.7:g.54382095_54382100del	NCBI36
NG_008647.1:g.62193_62198del

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.626+136_626+141del MANE Select	ENSP00000419045.2:n.626+136_626+141del
ENST00000254299.8:n.774+136_774+141del
ENST00000395514.5:c.626+136_626+141del	ENSP00000378890.1:n.626+136_626+141del
ENST00000395521.6:n.293-2578_293-2573del
ENST00000491895.6:c.626+136_626+141del	ENSP00000419045.2:n.626+136_626+141del
ENST00000536224.2:c.626+136_626+141del	ENSP00000445246.2:n.626+136_626+141del
ENST00000543643.6:c.626+136_626+141del	ENSP00000444011.2:n.626+136_626+141del
ENST00000622544.4:c.626+136_626+141del	ENSP00000477796.1:n.626+136_626+141del
NM_000161.2:c.626+136_626+141del	NP_000152.1:n.626+136_626+141del
NM_001024024.1:c.626+136_626+141del	NP_001019195.1:n.626+136_626+141del
NM_001024070.1:c.626+136_626+141del	NP_001019241.1:n.626+136_626+141del
NM_001024071.1:c.626+136_626+141del	NP_001019242.1:n.626+136_626+141del
XM_005267530.1:c.626+136_626+141del	XP_005267587.1:n.626+136_626+141del
XM_017021218.1:c.332+136_332+141del	XP_016876707.1:n.332+136_332+141del
NM_000161.3:c.626+136_626+141del MANE Select	NP_000152.1:n.626+136_626+141del
NM_001024070.2:c.626+136_626+141del	NP_001019241.1:n.626+136_626+141del
NM_001024071.2:c.626+136_626+141del	NP_001019242.1:n.626+136_626+141del
NM_001024024.2:c.626+136_626+141del	NP_001019195.1:n.626+136_626+141del