Canonical Allele Identifier: CA1126304300

Gene: GOLM1

Linked Data

• dbSNP Id: rs1834691282
• gnomAD v3: 9-86078601-G-GAGGTGCCAAGATC
• gnomAD v4: 9-86078601-G-GAGGTGCCAAGATC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.86078603_86078615dup , CM000671.2:g.86078603_86078615dup	GRCh38
NC_000009.11:g.88693518_88693530dup , CM000671.1:g.88693518_88693530dup	GRCh37
NC_000009.10:g.87883338_87883350dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388711.7:c.129+578_129+590dup	ENSP00000373363.3:n.129+578_129+590dup
ENST00000388712.7:c.129+578_129+590dup MANE Select	ENSP00000373364.3:n.129+578_129+590dup
ENST00000466178.1:c.129+578_129+590dup	ENSP00000418155.1:n.129+578_129+590dup
ENST00000470762.6:c.129+578_129+590dup	ENSP00000417504.2:n.129+578_129+590dup
ENST00000472919.1:n.190+687_190+699dup
ENST00000486130.5:c.129+578_129+590dup	ENSP00000419076.1:n.129+578_129+590dup
NM_016548.3:c.129+578_129+590dup	NP_057632.2:n.129+578_129+590dup
NM_177937.2:c.129+578_129+590dup	NP_808800.1:n.129+578_129+590dup
NM_016548.4:c.129+578_129+590dup MANE Select	NP_057632.2:n.129+578_129+590dup
NM_177937.3:c.129+578_129+590dup	NP_808800.1:n.129+578_129+590dup