Canonical Allele Identifier: CA339645

Gene: SOHLH1

Linked Data

• ClinVar Variation Id: 218902
• ClinVar RCV Id: RCV000203231 ; RCV000506534
• dbSNP Id: rs864309646
• MyVariant Identifiers: chr9:g.138591287G>C (hg19) ; chr9:g.135699441G>C (hg38)
• PubMed: PMID:17301727 ; PMID:25774885

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135699441G>C , CM000671.2:g.135699441G>C	GRCh38
NC_000009.11:g.138591287G>C , CM000671.1:g.138591287G>C	GRCh37
NC_000009.10:g.137731108G>C	NCBI36
NG_033070.1:g.2257G>C
NG_033784.1:g.5088C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425225.2:c.27C>G MANE Select	ENSP00000404438.1:p.Tyr9Ter
ENST00000674066.1:n.1217-315C>G
ENST00000298466.9:c.27C>G	ENSP00000298466.5:p.Tyr9Ter
ENST00000425225.1:c.27C>G	ENSP00000404438.1:p.Tyr9Ter
NM_001012415.2:c.27C>G	NP_001012415.2:p.Tyr9Ter
NM_001101677.1:c.27C>G	NP_001095147.1:p.Tyr9Ter
XM_005263403.2:c.27C>G	XP_005263460.1:p.Tyr9Ter
XM_006717109.2:c.-139-315C>G	XP_006717172.1:n.-139-315C>G
XM_011518698.1:c.27C>G	XP_011517000.1:p.Tyr9Ter
XM_005263403.3:c.27C>G	XP_005263460.1:p.Tyr9Ter
XM_006717109.4:c.-139-315C>G	XP_006717172.1:n.-139-315C>G
XM_011518698.3:c.27C>G	XP_011517000.1:p.Tyr9Ter
XM_024447552.1:c.-139-315C>G	XP_024303320.1:n.-139-315C>G
NM_001012415.3:c.27C>G	NP_001012415.3:p.Tyr9Ter
NM_001101677.2:c.27C>G MANE Select	NP_001095147.2:p.Tyr9Ter