Canonical Allele Identifier: CA446552099

Gene: SMAD5

Linked Data

• MyVariant Identifiers: chr5:g.135508283T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136172594T>C , CM000667.2:g.136172594T>C	GRCh38
NC_000005.9:g.135508283T>C , CM000667.1:g.135508283T>C	GRCh37
NC_000005.8:g.135536182T>C	NCBI36
NG_032037.1:g.44748T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509297.6:c.936T>C	ENSP00000426696.2:p.Gly312=
ENST00000545279.6:c.936T>C MANE Select	ENSP00000441954.2:p.Gly312=
ENST00000507637.1:c.403T>C
ENST00000514777.1:n.220T>C
ENST00000545279.5:c.936T>C	ENSP00000441954.2:p.Gly312=
ENST00000545620.5:c.936T>C	ENSP00000446474.2:p.Gly312=
NM_001001419.2:c.936T>C	NP_001001419.1:p.Gly312=
NM_001001420.2:c.936T>C	NP_001001420.1:p.Gly312=
NM_005903.6:c.936T>C	NP_005894.3:p.Gly312=
XM_017009470.2:c.936T>C	XP_016864959.1:p.Gly312=
XM_024446046.1:c.936T>C	XP_024301814.1:p.Gly312=
XM_024446047.1:c.936T>C	XP_024301815.1:p.Gly312=
NM_005903.7:c.936T>C MANE Select	NP_005894.3:p.Gly312=
NM_001001419.3:c.936T>C	NP_001001419.1:p.Gly312=
NM_001001420.3:c.936T>C	NP_001001420.1:p.Gly312=