Canonical Allele Identifier: CA577743464

Gene: SMO

Linked Data

• dbSNP Id: rs1207772267
• gnomAD v2: 7-128852994-C-T
• gnomAD v4: 7-129213153-C-T
• MyVariant Identifiers: chr7:g.128852994C>T (hg19) ; chr7:g.129213153C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213153C>T , CM000669.2:g.129213153C>T	GRCh38
NC_000007.13:g.128852994C>T , CM000669.1:g.128852994C>T	GRCh37
NC_000007.12:g.128640230C>T	NCBI36
NG_023340.1:g.29282C>T
NG_023340.2:g.29282C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*702C>T MANE Select	ENSP00000249373.3:n.*702C>T
ENST00000655644.1:c.*2821C>T	ENSP00000499377.1:n.*2821C>T
ENST00000249373.7:c.*702C>T	ENSP00000249373.3:n.*702C>T
NM_005631.4:c.*702C>T	NP_005622.1:n.*702C>T
XM_011516522.1:c.*702C>T	XP_011514824.1:n.*702C>T
XM_024446891.1:c.*702C>T	XP_024302659.1:n.*702C>T
NM_005631.5:c.*702C>T MANE Select	NP_005622.1:n.*702C>T