Canonical Allele Identifier: CA392958326

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67479827A>C (hg19) ; chr15:g.67187489A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187489A>C , CM000677.2:g.67187489A>C	GRCh38
NC_000015.9:g.67479827A>C , CM000677.1:g.67479827A>C	GRCh37
NC_000015.8:g.65266881A>C	NCBI36
NG_011990.1:g.126633A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.549A>C	ENSP00000454165.2:p.Lys183Asn
ENST00000558739.2:c.819A>C	ENSP00000453684.2:p.Lys273Asn
ENST00000558827.2:c.549A>C	ENSP00000452767.2:p.Lys183Asn
ENST00000559460.6:c.819A>C	ENSP00000453082.2:p.Lys273Asn
ENST00000560424.2:c.1245A>C	ENSP00000455540.2:p.Lys415Asn
ENST00000327367.9:c.1134A>C MANE Select	ENSP00000332973.4:p.Lys378Asn
ENST00000679624.1:c.819A>C	ENSP00000505445.1:p.Lys273Asn
ENST00000680689.1:n.837A>C
ENST00000681239.1:c.819A>C	ENSP00000505641.1:p.Lys273Asn
ENST00000327367.8:c.1134A>C	ENSP00000332973.4:p.Lys378Asn
ENST00000439724.7:c.1002A>C	ENSP00000401133.3:p.Lys334Asn
ENST00000537194.6:c.549A>C	ENSP00000445348.2:p.Lys183Asn
ENST00000540846.6:c.819A>C	ENSP00000437757.2:p.Lys273Asn
ENST00000558763.1:n.828A>C
ENST00000560402.1:n.283-5384A>C
ENST00000560424.1:c.326A>C
NM_001145102.1:c.819A>C	NP_001138574.1:p.Lys273Asn
NM_001145103.1:c.1002A>C	NP_001138575.1:p.Lys334Asn
NM_001145104.1:c.549A>C	NP_001138576.1:p.Lys183Asn
NM_005902.3:c.1134A>C	NP_005893.1:p.Lys378Asn
XM_011521559.1:c.1002A>C	XP_011519861.1:p.Lys334Asn
XM_011521560.1:c.987A>C	XP_011519862.1:p.Lys329Asn
XM_011521559.3:c.1002A>C	XP_011519861.1:p.Lys334Asn
NM_005902.4:c.1134A>C MANE Select	NP_005893.1:p.Lys378Asn
NM_001145102.2:c.819A>C	NP_001138574.1:p.Lys273Asn
NM_001145103.2:c.1002A>C	NP_001138575.1:p.Lys334Asn
NM_001145104.2:c.549A>C	NP_001138576.1:p.Lys183Asn