Canonical Allele Identifier: CA2692951946
Gene: SHOX HGNC NCBI

Linked Data

gnomAD v4: X-641238-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.641238G>T , CM000685.2:g.641238G>T GRCh38
NC_000023.10:g.601973G>T , CM000685.1:g.601973G>T GRCh37
NC_000023.9:g.521973G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.633+151G>T MANE Select ENSP00000508521.1:n.633+151G>T
ENST00000334060.8:c.633+151G>T ENSP00000335505.3:n.633+151G>T
ENST00000381575.6:c.633+151G>T ENSP00000370987.1:n.633+151G>T
ENST00000381578.6:c.633+151G>T ENSP00000370990.1:n.633+151G>T
ENST00000554971.6:c.633+151G>T ENSP00000452016.1:n.633+151G>T