Canonical Allele Identifier: CA5326172

Gene: SOHLH1

Linked Data

• dbSNP Id: rs777599451
• ExAC: 9:138591298 A / G
• gnomAD v2: 9-138591298-A-G
• gnomAD v4: 9-135699452-A-G
• MyVariant Identifiers: chr9:g.138591298A>G (hg19) ; chr9:g.135699452A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135699452A>G , CM000671.2:g.135699452A>G	GRCh38
NC_000009.11:g.138591298A>G , CM000671.1:g.138591298A>G	GRCh37
NC_000009.10:g.137731119A>G	NCBI36
NG_033070.1:g.2268A>G
NG_033784.1:g.5077T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425225.2:c.16T>C MANE Select	ENSP00000404438.1:p.Ser6Pro
ENST00000674066.1:n.1217-326T>C
ENST00000298466.9:c.16T>C	ENSP00000298466.5:p.Ser6Pro
ENST00000425225.1:c.16T>C	ENSP00000404438.1:p.Ser6Pro
NM_001012415.2:c.16T>C	NP_001012415.2:p.Ser6Pro
NM_001101677.1:c.16T>C	NP_001095147.1:p.Ser6Pro
XM_005263403.2:c.16T>C	XP_005263460.1:p.Ser6Pro
XM_006717109.2:c.-140+318T>C	XP_006717172.1:n.-140+318T>C
XM_011518698.1:c.16T>C	XP_011517000.1:p.Ser6Pro
XM_005263403.3:c.16T>C	XP_005263460.1:p.Ser6Pro
XM_006717109.4:c.-140+318T>C	XP_006717172.1:n.-140+318T>C
XM_011518698.3:c.16T>C	XP_011517000.1:p.Ser6Pro
XM_024447552.1:c.-140+318T>C	XP_024303320.1:n.-140+318T>C
NM_001012415.3:c.16T>C	NP_001012415.3:p.Ser6Pro
NM_001101677.2:c.16T>C MANE Select	NP_001095147.2:p.Ser6Pro