Canonical Allele Identifier: CA501432750

Gene: SOX9

Linked Data

• dbSNP Id: rs1464498148
• gnomAD v2: 17-70120108-G-A
• gnomAD v4: 17-72123967-G-A
• MyVariant Identifiers: chr17:g.70120108G>A (hg19) ; chr17:g.72123967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123967G>A , CM000679.2:g.72123967G>A	GRCh38
NC_000017.10:g.70120108G>A , CM000679.1:g.70120108G>A	GRCh37
NC_000017.9:g.67631703G>A	NCBI36
NG_012490.1:g.7948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.1110G>A MANE Select	ENSP00000245479.2:p.Pro370=
ENST00000245479.2:c.1110G>A	ENSP00000245479.2:p.Pro370=
NM_000346.3:c.1110G>A	NP_000337.1:p.Pro370=
NM_000346.4:c.1110G>A MANE Select	NP_000337.1:p.Pro370=