Canonical Allele Identifier: CA7246431

Gene: SMOC1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.69953533G>A , CM000676.2:g.69953533G>A	GRCh38
NC_000014.8:g.70420250G>A , CM000676.1:g.70420250G>A	GRCh37
NC_000014.7:g.69490003G>A	NCBI36
NG_028217.1:g.79137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361956.8:c.378+1G>A MANE Select	ENSP00000355110.4:n.378+1G>A
ENST00000361956.7:c.378+1G>A	ENSP00000355110.3:n.378+1G>A
ENST00000381280.4:c.378+1G>A	ENSP00000370680.4:n.378+1G>A
ENST00000553839.1:n.280+1G>A
NM_001034852.2:c.378+1G>A	NP_001030024.1:n.378+1G>A
NM_022137.5:c.378+1G>A	NP_071420.1:n.378+1G>A
XM_005267995.1:c.378+1G>A	XP_005268052.1:n.378+1G>A
XM_005267996.1:c.378+1G>A	XP_005268053.1:n.378+1G>A
NM_001034852.3:c.378+1G>A MANE Select	NP_001030024.1:n.378+1G>A
NM_022137.6:c.378+1G>A	NP_071420.1:n.378+1G>A