Canonical Allele Identifier: CA457628273

Gene: SMO

Linked Data

• dbSNP Id: rs2150653947
• gnomAD v4: 7-129210504-C-T
• MyVariant Identifiers: chr7:g.128850345C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129210504C>T , CM000669.2:g.129210504C>T	GRCh38
NC_000007.13:g.128850345C>T , CM000669.1:g.128850345C>T	GRCh37
NC_000007.12:g.128637581C>T	NCBI36
NG_023340.1:g.26633C>T
NG_023340.2:g.26633C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.1608C>T MANE Select	ENSP00000249373.3:p.Val536=
ENST00000655644.1:c.*1363C>T	ENSP00000499377.1:n.*1363C>T
ENST00000249373.7:c.1608C>T	ENSP00000249373.3:p.Val536=
ENST00000462420.2:c.579C>T
NM_005631.4:c.1608C>T	NP_005622.1:p.Val536=
XM_011516522.1:c.1218C>T	XP_011514824.1:p.Val406=
XM_024446891.1:c.1218C>T	XP_024302659.1:p.Val406=
NM_005631.5:c.1608C>T MANE Select	NP_005622.1:p.Val536=