Canonical Allele Identifier: CA1826138394

Gene: SHARPIN

Linked Data

• dbSNP Id: rs12550729

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144100505C>G , CM000670.2:g.144100505C>G	GRCh38
NC_000008.10:g.145155408C>G , CM000670.1:g.145155408C>G	GRCh37
NC_000008.9:g.145227396C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000398712.7:c.377-436G>C MANE Select	ENSP00000381698.2:n.377-436G>C
ENST00000359551.6:c.377-436G>C	ENSP00000352551.6:n.377-436G>C
ENST00000398712.6:c.377-436G>C	ENSP00000381698.2:n.377-436G>C
ENST00000530216.5:n.100+238G>C
ENST00000533948.1:n.599-436G>C
ENST00000534242.5:n.402-436G>C
NM_030974.3:c.377-436G>C	NP_112236.3:n.377-436G>C
NR_038270.1:n.859-436G>C
XM_017013887.2:c.377-436G>C	XP_016869376.1:n.377-436G>C
XM_017013888.2:c.377-436G>C	XP_016869377.1:n.377-436G>C
NM_030974.4:c.377-436G>C MANE Select	NP_112236.3:n.377-436G>C
NR_038270.2:n.397-436G>C