Canonical Allele Identifier: CA2138224436

Gene: GCH1

Linked Data

• dbSNP Id: rs2039837344
• gnomAD v3: 14-54857962-CCTAT-C
• gnomAD v4: 14-54857962-CCTAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54857966_54857969del , CM000676.2:g.54857966_54857969del	GRCh38
NC_000014.8:g.55324684_55324687del , CM000676.1:g.55324684_55324687del	GRCh37
NC_000014.7:g.54394434_54394437del	NCBI36
NG_008647.1:g.49859_49862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.509+1715_509+1718del MANE Select	ENSP00000419045.2:n.509+1715_509+1718del
ENST00000254299.8:n.657+1715_657+1718del
ENST00000395514.5:c.509+1715_509+1718del	ENSP00000378890.1:n.509+1715_509+1718del
ENST00000395521.6:n.292+1715_292+1718del
ENST00000491895.6:c.509+1715_509+1718del	ENSP00000419045.2:n.509+1715_509+1718del
ENST00000536224.2:c.509+1715_509+1718del	ENSP00000445246.2:n.509+1715_509+1718del
ENST00000543643.6:c.509+1715_509+1718del	ENSP00000444011.2:n.509+1715_509+1718del
ENST00000622544.4:c.509+1715_509+1718del	ENSP00000477796.1:n.509+1715_509+1718del
NM_000161.2:c.509+1715_509+1718del	NP_000152.1:n.509+1715_509+1718del
NM_001024024.1:c.509+1715_509+1718del	NP_001019195.1:n.509+1715_509+1718del
NM_001024070.1:c.509+1715_509+1718del	NP_001019241.1:n.509+1715_509+1718del
NM_001024071.1:c.509+1715_509+1718del	NP_001019242.1:n.509+1715_509+1718del
XM_005267530.1:c.509+1715_509+1718del	XP_005267587.1:n.509+1715_509+1718del
XM_011536643.1:c.510-1199_510-1196del	XP_011534945.1:n.510-1199_510-1196del
XM_017021218.1:c.215+1715_215+1718del	XP_016876707.1:n.215+1715_215+1718del
NM_000161.3:c.509+1715_509+1718del MANE Select	NP_000152.1:n.509+1715_509+1718del
NM_001024070.2:c.509+1715_509+1718del	NP_001019241.1:n.509+1715_509+1718del
NM_001024071.2:c.509+1715_509+1718del	NP_001019242.1:n.509+1715_509+1718del
NM_001024024.2:c.509+1715_509+1718del	NP_001019195.1:n.509+1715_509+1718del