Canonical Allele Identifier: CA2692511067

Gene: SOHLH1

Linked Data

• gnomAD v4: 9-135699351-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135699351T>C , CM000671.2:g.135699351T>C	GRCh38
NC_000009.11:g.138591197T>C , CM000671.1:g.138591197T>C	GRCh37
NC_000009.10:g.137731018T>C	NCBI36
NG_033070.1:g.2167T>C
NG_033784.1:g.5178A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000425225.2:c.65+52A>G MANE Select	ENSP00000404438.1:n.65+52A>G
ENST00000674066.1:n.1217-225A>G
ENST00000298466.9:c.65+52A>G	ENSP00000298466.5:n.65+52A>G
ENST00000425225.1:c.65+52A>G	ENSP00000404438.1:n.65+52A>G
NM_001012415.2:c.65+52A>G	NP_001012415.2:n.65+52A>G
NM_001101677.1:c.65+52A>G	NP_001095147.1:n.65+52A>G
XM_005263403.2:c.65+52A>G	XP_005263460.1:n.65+52A>G
XM_006717109.2:c.-139-225A>G	XP_006717172.1:n.-139-225A>G
XM_011518698.1:c.65+52A>G	XP_011517000.1:n.65+52A>G
XM_005263403.3:c.65+52A>G	XP_005263460.1:n.65+52A>G
XM_006717109.4:c.-139-225A>G	XP_006717172.1:n.-139-225A>G
XM_011518698.3:c.65+52A>G	XP_011517000.1:n.65+52A>G
XM_024447552.1:c.-139-225A>G	XP_024303320.1:n.-139-225A>G
NM_001012415.3:c.65+52A>G	NP_001012415.3:n.65+52A>G
NM_001101677.2:c.65+52A>G MANE Select	NP_001095147.2:n.65+52A>G