Canonical Allele Identifier: CA392953927

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67457312G>C (hg19) ; chr15:g.67164974G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164974G>C , CM000677.2:g.67164974G>C	GRCh38
NC_000015.9:g.67457312G>C , CM000677.1:g.67457312G>C	GRCh37
NC_000015.8:g.65244366G>C	NCBI36
NG_011990.1:g.104118G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000558739.2:c.-30G>C	ENSP00000453684.2:n.-30G>C
ENST00000559460.6:c.-30G>C	ENSP00000453082.2:n.-30G>C
ENST00000560424.2:c.286G>C	ENSP00000455540.2:p.Asp96His
ENST00000327367.9:c.286G>C MANE Select	ENSP00000332973.4:p.Asp96His
ENST00000679624.1:c.-30G>C	ENSP00000505445.1:n.-30G>C
ENST00000681239.1:c.-30G>C	ENSP00000505641.1:n.-30G>C
ENST00000327367.8:c.286G>C	ENSP00000332973.4:p.Asp96His
ENST00000439724.7:c.154G>C	ENSP00000401133.3:p.Asp52His
ENST00000540846.6:c.-30G>C	ENSP00000437757.2:n.-30G>C
ENST00000558739.1:c.-30G>C	ENSP00000453684.1:n.-30G>C
ENST00000558894.5:c.-30G>C	ENSP00000458060.1:n.-30G>C
ENST00000559092.1:c.231G>C	ENSP00000453788.1:p.Gln77His
ENST00000559460.5:c.-30G>C	ENSP00000453082.1:n.-30G>C
ENST00000559937.1:n.136G>C
ENST00000560175.5:c.-30G>C	ENSP00000455095.1:n.-30G>C
NM_001145102.1:c.-30G>C	NP_001138574.1:n.-30G>C
NM_001145103.1:c.154G>C	NP_001138575.1:p.Asp52His
NM_005902.3:c.286G>C	NP_005893.1:p.Asp96His
XM_011521559.1:c.286G>C	XP_011519861.1:p.Asp96His
XM_011521560.1:c.139G>C	XP_011519862.1:p.Asp47His
XM_011521559.3:c.286G>C	XP_011519861.1:p.Asp96His
NM_005902.4:c.286G>C MANE Select	NP_005893.1:p.Asp96His
NM_001145102.2:c.-30G>C	NP_001138574.1:n.-30G>C
NM_001145103.2:c.154G>C	NP_001138575.1:p.Asp52His