Canonical Allele Identifier: CA2692511072

Gene: SOHLH1

Linked Data

• gnomAD v4: 9-135699354-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135699354G>A , CM000671.2:g.135699354G>A	GRCh38
NC_000009.11:g.138591200G>A , CM000671.1:g.138591200G>A	GRCh37
NC_000009.10:g.137731021G>A	NCBI36
NG_033070.1:g.2170G>A
NG_033784.1:g.5175C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425225.2:c.65+49C>T MANE Select	ENSP00000404438.1:n.65+49C>T
ENST00000674066.1:n.1217-228C>T
ENST00000298466.9:c.65+49C>T	ENSP00000298466.5:n.65+49C>T
ENST00000425225.1:c.65+49C>T	ENSP00000404438.1:n.65+49C>T
NM_001012415.2:c.65+49C>T	NP_001012415.2:n.65+49C>T
NM_001101677.1:c.65+49C>T	NP_001095147.1:n.65+49C>T
XM_005263403.2:c.65+49C>T	XP_005263460.1:n.65+49C>T
XM_006717109.2:c.-139-228C>T	XP_006717172.1:n.-139-228C>T
XM_011518698.1:c.65+49C>T	XP_011517000.1:n.65+49C>T
XM_005263403.3:c.65+49C>T	XP_005263460.1:n.65+49C>T
XM_006717109.4:c.-139-228C>T	XP_006717172.1:n.-139-228C>T
XM_011518698.3:c.65+49C>T	XP_011517000.1:n.65+49C>T
XM_024447552.1:c.-139-228C>T	XP_024303320.1:n.-139-228C>T
NM_001012415.3:c.65+49C>T	NP_001012415.3:n.65+49C>T
NM_001101677.2:c.65+49C>T MANE Select	NP_001095147.2:n.65+49C>T