Canonical Allele Identifier: CA502069861

Gene: SEPTIN9

Linked Data

• gnomAD v4: 17-77402399-C-A
• MyVariant Identifiers: chr17:g.75398481C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402399C>A , CM000679.2:g.77402399C>A	GRCh38
NC_000017.10:g.75398481C>A , CM000679.1:g.75398481C>A	GRCh37
NC_000017.9:g.72910076C>A	NCBI36
NG_011683.1:g.125990C>A
NG_011683.2:g.125990C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.363C>A MANE Plus Clinical	ENSP00000329161.8:p.Gly121=
ENST00000427177.6:c.417C>A MANE Select	ENSP00000391249.1:p.Gly139=
ENST00000588690.6:c.-76C>A	ENSP00000468668.1:n.-76C>A
ENST00000590294.6:n.466C>A
ENST00000329047.12:c.363C>A	ENSP00000329161.8:p.Gly121=
ENST00000423034.6:c.396C>A	ENSP00000405877.1:p.Gly132=
ENST00000427177.5:c.417C>A	ENSP00000391249.1:p.Gly139=
ENST00000427674.6:c.-76C>A	ENSP00000403194.1:n.-76C>A
ENST00000431235.6:c.-76C>A	ENSP00000406987.2:n.-76C>A
ENST00000449803.6:c.-76C>A	ENSP00000400181.2:n.-76C>A
ENST00000588575.1:c.99C>A	ENSP00000468090.1:p.Gly33=
ENST00000588690.5:c.-76C>A	ENSP00000468668.1:n.-76C>A
ENST00000589070.1:c.372C>A	ENSP00000465332.1:p.Gly124=
ENST00000589140.1:c.372C>A	ENSP00000466997.1:p.Gly124=
ENST00000590059.5:c.25-157C>A	ENSP00000466164.1:n.25-157C>A
ENST00000590294.5:c.363C>A	ENSP00000465464.1:p.Gly121=
ENST00000590576.5:c.*417C>A	ENSP00000465600.1:n.*417C>A
ENST00000590586.1:n.522C>A
ENST00000590595.1:c.99C>A	ENSP00000465026.1:p.Gly33=
ENST00000590825.1:c.-76C>A	ENSP00000468244.1:n.-76C>A
ENST00000591198.5:c.360C>A	ENSP00000468406.1:p.Gly120=
ENST00000591934.1:c.438C>A	ENSP00000468504.1:p.Gly146=
ENST00000592098.1:n.447C>A
ENST00000592420.1:c.-157C>A	ENSP00000467051.1:n.-157C>A
NM_001113491.1:c.417C>A	NP_001106963.1:p.Gly139=
NM_001113492.1:c.-76C>A	NP_001106964.1:n.-76C>A
NM_001113493.1:c.396C>A	NP_001106965.1:p.Gly132=
NM_001113494.1:c.-76C>A	NP_001106966.1:n.-76C>A
NM_001293695.1:c.360C>A	NP_001280624.1:p.Gly120=
NM_006640.4:c.363C>A	NP_006631.2:p.Gly121=
XM_006721643.2:c.-76C>A	XP_006721706.1:n.-76C>A
XM_011524204.1:c.510C>A	XP_011522506.1:p.Gly170=
XM_011524205.1:c.507C>A	XP_011522507.1:p.Gly169=
XM_011524206.1:c.372C>A	XP_011522508.1:p.Gly124=
XM_011524207.1:c.-76C>A	XP_011522509.1:n.-76C>A
NM_001113491.2:c.417C>A MANE Select	NP_001106963.1:p.Gly139=
NM_001113493.2:c.396C>A	NP_001106965.1:p.Gly132=
NM_001293695.2:c.360C>A	NP_001280624.1:p.Gly120=
NM_001113492.2:c.-76C>A	NP_001106964.1:n.-76C>A
NM_006640.5:c.363C>A MANE Plus Clinical	NP_006631.2:p.Gly121=