Canonical Allele Identifier: CA375492392

Gene: SOHLH1

Linked Data

• gnomAD v4: 9-135699451-G-A
• MyVariant Identifiers: chr9:g.138591297G>A (hg19) ; chr9:g.135699451G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135699451G>A , CM000671.2:g.135699451G>A	GRCh38
NC_000009.11:g.138591297G>A , CM000671.1:g.138591297G>A	GRCh37
NC_000009.10:g.137731118G>A	NCBI36
NG_033070.1:g.2267G>A
NG_033784.1:g.5078C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000425225.2:c.17C>T MANE Select	ENSP00000404438.1:p.Ser6Phe
ENST00000674066.1:n.1217-325C>T
ENST00000298466.9:c.17C>T	ENSP00000298466.5:p.Ser6Phe
ENST00000425225.1:c.17C>T	ENSP00000404438.1:p.Ser6Phe
NM_001012415.2:c.17C>T	NP_001012415.2:p.Ser6Phe
NM_001101677.1:c.17C>T	NP_001095147.1:p.Ser6Phe
XM_005263403.2:c.17C>T	XP_005263460.1:p.Ser6Phe
XM_006717109.2:c.-140+319C>T	XP_006717172.1:n.-140+319C>T
XM_011518698.1:c.17C>T	XP_011517000.1:p.Ser6Phe
XM_005263403.3:c.17C>T	XP_005263460.1:p.Ser6Phe
XM_006717109.4:c.-140+319C>T	XP_006717172.1:n.-140+319C>T
XM_011518698.3:c.17C>T	XP_011517000.1:p.Ser6Phe
XM_024447552.1:c.-140+319C>T	XP_024303320.1:n.-140+319C>T
NM_001012415.3:c.17C>T	NP_001012415.3:p.Ser6Phe
NM_001101677.2:c.17C>T MANE Select	NP_001095147.2:p.Ser6Phe