Canonical Allele Identifier: CA591364440

Gene: SOHLH1

Linked Data

• dbSNP Id: rs375273019
• gnomAD v2: 9-138591202-A-T
• gnomAD v3: 9-135699356-A-T
• gnomAD v4: 9-135699356-A-T
• MyVariant Identifiers: chr9:g.138591202A>T (hg19) ; chr9:g.135699356A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135699356A>T , CM000671.2:g.135699356A>T	GRCh38
NC_000009.11:g.138591202A>T , CM000671.1:g.138591202A>T	GRCh37
NC_000009.10:g.137731023A>T	NCBI36
NG_033070.1:g.2172A>T
NG_033784.1:g.5173T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000425225.2:c.65+47T>A MANE Select	ENSP00000404438.1:n.65+47T>A
ENST00000674066.1:n.1217-230T>A
ENST00000298466.9:c.65+47T>A	ENSP00000298466.5:n.65+47T>A
ENST00000425225.1:c.65+47T>A	ENSP00000404438.1:n.65+47T>A
NM_001012415.2:c.65+47T>A	NP_001012415.2:n.65+47T>A
NM_001101677.1:c.65+47T>A	NP_001095147.1:n.65+47T>A
XM_005263403.2:c.65+47T>A	XP_005263460.1:n.65+47T>A
XM_006717109.2:c.-139-230T>A	XP_006717172.1:n.-139-230T>A
XM_011518698.1:c.65+47T>A	XP_011517000.1:n.65+47T>A
XM_005263403.3:c.65+47T>A	XP_005263460.1:n.65+47T>A
XM_006717109.4:c.-139-230T>A	XP_006717172.1:n.-139-230T>A
XM_011518698.3:c.65+47T>A	XP_011517000.1:n.65+47T>A
XM_024447552.1:c.-139-230T>A	XP_024303320.1:n.-139-230T>A
NM_001012415.3:c.65+47T>A	NP_001012415.3:n.65+47T>A
NM_001101677.2:c.65+47T>A MANE Select	NP_001095147.2:n.65+47T>A