Canonical Allele Identifier: CA467691442

Gene: SOHLH1

Linked Data

• gnomAD v4: 9-135699450-G-C
• MyVariant Identifiers: chr9:g.138591296G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135699450G>C , CM000671.2:g.135699450G>C	GRCh38
NC_000009.11:g.138591296G>C , CM000671.1:g.138591296G>C	GRCh37
NC_000009.10:g.137731117G>C	NCBI36
NG_033070.1:g.2266G>C
NG_033784.1:g.5079C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425225.2:c.18C>G MANE Select	ENSP00000404438.1:p.Ser6=
ENST00000674066.1:n.1217-324C>G
ENST00000298466.9:c.18C>G	ENSP00000298466.5:p.Ser6=
ENST00000425225.1:c.18C>G	ENSP00000404438.1:p.Ser6=
NM_001012415.2:c.18C>G	NP_001012415.2:p.Ser6=
NM_001101677.1:c.18C>G	NP_001095147.1:p.Ser6=
XM_005263403.2:c.18C>G	XP_005263460.1:p.Ser6=
XM_006717109.2:c.-140+320C>G	XP_006717172.1:n.-140+320C>G
XM_011518698.1:c.18C>G	XP_011517000.1:p.Ser6=
XM_005263403.3:c.18C>G	XP_005263460.1:p.Ser6=
XM_006717109.4:c.-140+320C>G	XP_006717172.1:n.-140+320C>G
XM_011518698.3:c.18C>G	XP_011517000.1:p.Ser6=
XM_024447552.1:c.-140+320C>G	XP_024303320.1:n.-140+320C>G
NM_001012415.3:c.18C>G	NP_001012415.3:p.Ser6=
NM_001101677.2:c.18C>G MANE Select	NP_001095147.2:p.Ser6=