Canonical Allele Identifier: CA2604411589

Gene: SMO

Linked Data

• dbSNP Id: rs2150658132
• gnomAD v3: 7-129213227-C-T
• gnomAD v4: 7-129213227-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213227C>T , CM000669.2:g.129213227C>T	GRCh38
NC_000007.13:g.128853068C>T , CM000669.1:g.128853068C>T	GRCh37
NC_000007.12:g.128640304C>T	NCBI36
NG_023340.1:g.29356C>T
NG_023340.2:g.29356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*776C>T MANE Select	ENSP00000249373.3:n.*776C>T
ENST00000655644.1:c.*2895C>T	ENSP00000499377.1:n.*2895C>T
ENST00000249373.7:c.*776C>T	ENSP00000249373.3:n.*776C>T
NM_005631.4:c.*776C>T	NP_005622.1:n.*776C>T
XM_011516522.1:c.*776C>T	XP_011514824.1:n.*776C>T
XM_024446891.1:c.*776C>T	XP_024302659.1:n.*776C>T
NM_005631.5:c.*776C>T MANE Select	NP_005622.1:n.*776C>T