Canonical Allele Identifier: CA412231201
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs758706054
gnomAD v2: X-595377-G-T
gnomAD v4: X-634642-G-T
MyVariant Identifiers: chrX:g.595377G>T (hg19) chrX:g.634642G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634642G>T , CM000685.2:g.634642G>T GRCh38
NC_000023.10:g.595377G>T , CM000685.1:g.595377G>T GRCh37
NC_000023.9:g.515377G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000686671.1:c.302G>T MANE Select ENSP00000508521.1:p.Arg101Leu
ENST00000334060.8:c.302G>T ENSP00000335505.3:p.Arg101Leu
ENST00000381575.6:c.302G>T ENSP00000370987.1:p.Arg101Leu
ENST00000381578.6:c.302G>T ENSP00000370990.1:p.Arg101Leu
ENST00000554971.6:c.302G>T ENSP00000452016.1:p.Arg101Leu
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