Canonical Allele Identifier: CA467691401
Community Standard Title: NM_001101677.2(SOHLH1):c.27C>T (p.Tyr9=)
Gene: SOHLH1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001101677.2:c.27C>T MANE Select NP_001095147.2:p.Tyr9=
ENST00000425225.2:c.27C>T MANE Select ENSP00000404438.1:p.Tyr9=
NM_001012415.2:c.27C>T NP_001012415.2:p.Tyr9=
NM_001012415.3:c.27C>T NP_001012415.3:p.Tyr9=
NM_001101677.1:c.27C>T NP_001095147.1:p.Tyr9=
ENST00000298466.9:c.27C>T ENSP00000298466.5:p.Tyr9=
ENST00000425225.1:c.27C>T ENSP00000404438.1:p.Tyr9=
ENST00000674066.1:n.1217-315C>T
XM_005263403.2:c.27C>T XP_005263460.1:p.Tyr9=
XM_005263403.3:c.27C>T XP_005263460.1:p.Tyr9=
XM_006717109.2:c.-139-315C>T XP_006717172.1:n.-139-315C>T
XM_006717109.4:c.-139-315C>T XP_006717172.1:n.-139-315C>T
XM_011518698.1:c.27C>T XP_011517000.1:p.Tyr9=
XM_011518698.3:c.27C>T XP_011517000.1:p.Tyr9=
XM_024447552.1:c.-139-315C>T XP_024303320.1:n.-139-315C>T