Canonical Allele Identifier: CA1939014513

Gene: SHTN1

Linked Data

• dbSNP Id: rs1589918594

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.117067962G>A , CM000672.2:g.117067962G>A	GRCh38
NC_000010.10:g.118827473G>A , CM000672.1:g.118827473G>A	GRCh37
NC_000010.9:g.118817463G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000392901.10:c.-188-19452C>T	ENSP00000376635.4:n.-188-19452C>T
ENST00000392901.8:c.-188-19452C>T	ENSP00000376635.4:n.-188-19452C>T
NM_001258300.1:c.-188-19452C>T	NP_001245229.1:n.-188-19452C>T