Canonical Allele Identifier: CA10330070
Gene: SHOX HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.641051C>T
GRCh37 chrX:g.601786C>T
gnomAD v2:
X:601786 C / T
gnomAD v3:
X:641051 C / T
gnomAD v4:
chrX-641051-C-T
Joint Max Group AF 0.00013411 (MID)
Exomes Max Group AF 0.00014176 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.641051C>T , CM000685.2:g.641051C>T GRCh38
NC_000023.10:g.601786C>T , CM000685.1:g.601786C>T GRCh37
NC_000023.9:g.521786C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.597C>T MANE Select ENSP00000508521.1:p.Tyr199=
ENST00000334060.8:c.597C>T ENSP00000335505.3:p.Tyr199=
ENST00000381575.6:c.597C>T ENSP00000370987.1:p.Tyr199=
ENST00000381578.6:c.597C>T ENSP00000370990.1:p.Tyr199=
ENST00000554971.6:c.597C>T ENSP00000452016.1:p.Tyr199=
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