Canonical Allele Identifier: CA986061919

Gene: SOX9

Linked Data

• gnomAD v3: 17-72122491-A-C
• gnomAD v4: 17-72122491-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122491A>C , CM000679.2:g.72122491A>C	GRCh38
NC_000017.10:g.70118632A>C , CM000679.1:g.70118632A>C	GRCh37
NC_000017.9:g.67630227A>C	NCBI36
NG_012490.1:g.6472A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.432-228A>C MANE Select	ENSP00000245479.2:n.432-228A>C
ENST00000245479.2:c.432-228A>C	ENSP00000245479.2:n.432-228A>C
NM_000346.3:c.432-228A>C	NP_000337.1:n.432-228A>C
NM_000346.4:c.432-228A>C MANE Select	NP_000337.1:n.432-228A>C