Canonical Allele Identifier: CA061614

Gene: SMAD3

Linked Data

• dbSNP Id: rs770416788
• ExAC: 15:67358604 C / T
• gnomAD v2: 15-67358604-C-T
• gnomAD v4: 15-67066266-C-T
• MyVariant Identifiers: chr15:g.67358604C>T (hg19) ; chr15:g.67066266C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066266C>T , CM000677.2:g.67066266C>T	GRCh38
NC_000015.9:g.67358604C>T , CM000677.1:g.67358604C>T	GRCh37
NC_000015.8:g.65145658C>T	NCBI36
NG_011990.1:g.5410C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2322C>T	ENSP00000453082.2:n.-110+2322C>T
ENST00000560424.2:c.112C>T	ENSP00000455540.2:p.Leu38=
ENST00000327367.9:c.112C>T MANE Select	ENSP00000332973.4:p.Leu38=
ENST00000327367.8:c.112C>T	ENSP00000332973.4:p.Leu38=
ENST00000559460.5:c.-110+2322C>T	ENSP00000453082.1:n.-110+2322C>T
NM_005902.3:c.112C>T	NP_005893.1:p.Leu38=
XM_011521559.1:c.112C>T	XP_011519861.1:p.Leu38=
XM_011521559.3:c.112C>T	XP_011519861.1:p.Leu38=
NM_005902.4:c.112C>T MANE Select	NP_005893.1:p.Leu38=