Canonical Allele Identifier: CA2639603059
Gene: SOX9 HGNC NCBI

Linked Data

gnomAD v4: 17-72123433-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123433G>T , CM000679.2:g.72123433G>T GRCh38
NC_000017.10:g.70119574G>T , CM000679.1:g.70119574G>T GRCh37
NC_000017.9:g.67631169G>T NCBI36
NG_012490.1:g.7414G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.686-110G>T MANE Select ENSP00000245479.2:n.686-110G>T
ENST00000245479.2:c.686-110G>T ENSP00000245479.2:n.686-110G>T
NM_000346.3:c.686-110G>T NP_000337.1:n.686-110G>T
NM_000346.4:c.686-110G>T MANE Select NP_000337.1:n.686-110G>T
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