Canonical Allele Identifier: CA375492366

Gene: SOHLH1

Linked Data

• gnomAD v4: 9-135699443-A-G
• MyVariant Identifiers: chr9:g.138591289A>G (hg19) ; chr9:g.135699443A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135699443A>G , CM000671.2:g.135699443A>G	GRCh38
NC_000009.11:g.138591289A>G , CM000671.1:g.138591289A>G	GRCh37
NC_000009.10:g.137731110A>G	NCBI36
NG_033070.1:g.2259A>G
NG_033784.1:g.5086T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425225.2:c.25T>C MANE Select	ENSP00000404438.1:p.Tyr9His
ENST00000674066.1:n.1217-317T>C
ENST00000298466.9:c.25T>C	ENSP00000298466.5:p.Tyr9His
ENST00000425225.1:c.25T>C	ENSP00000404438.1:p.Tyr9His
NM_001012415.2:c.25T>C	NP_001012415.2:p.Tyr9His
NM_001101677.1:c.25T>C	NP_001095147.1:p.Tyr9His
XM_005263403.2:c.25T>C	XP_005263460.1:p.Tyr9His
XM_006717109.2:c.-139-317T>C	XP_006717172.1:n.-139-317T>C
XM_011518698.1:c.25T>C	XP_011517000.1:p.Tyr9His
XM_005263403.3:c.25T>C	XP_005263460.1:p.Tyr9His
XM_006717109.4:c.-139-317T>C	XP_006717172.1:n.-139-317T>C
XM_011518698.3:c.25T>C	XP_011517000.1:p.Tyr9His
XM_024447552.1:c.-139-317T>C	XP_024303320.1:n.-139-317T>C
NM_001012415.3:c.25T>C	NP_001012415.3:p.Tyr9His
NM_001101677.2:c.25T>C MANE Select	NP_001095147.2:p.Tyr9His