Canonical Allele Identifier: CA361039227

Gene: SMAD5

Linked Data

• MyVariant Identifiers: chr5:g.135508296G>C (hg19) ; chr5:g.136172607G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136172607G>C , CM000667.2:g.136172607G>C	GRCh38
NC_000005.9:g.135508296G>C , CM000667.1:g.135508296G>C	GRCh37
NC_000005.8:g.135536195G>C	NCBI36
NG_032037.1:g.44761G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509297.6:c.949G>C	ENSP00000426696.2:p.Val317Leu
ENST00000545279.6:c.949G>C MANE Select	ENSP00000441954.2:p.Val317Leu
ENST00000507637.1:c.416G>C
ENST00000514777.1:n.233G>C
ENST00000545279.5:c.949G>C	ENSP00000441954.2:p.Val317Leu
ENST00000545620.5:c.949G>C	ENSP00000446474.2:p.Val317Leu
NM_001001419.2:c.949G>C	NP_001001419.1:p.Val317Leu
NM_001001420.2:c.949G>C	NP_001001420.1:p.Val317Leu
NM_005903.6:c.949G>C	NP_005894.3:p.Val317Leu
XM_017009470.2:c.949G>C	XP_016864959.1:p.Val317Leu
XM_024446046.1:c.949G>C	XP_024301814.1:p.Val317Leu
XM_024446047.1:c.949G>C	XP_024301815.1:p.Val317Leu
NM_005903.7:c.949G>C MANE Select	NP_005894.3:p.Val317Leu
NM_001001419.3:c.949G>C	NP_001001419.1:p.Val317Leu
NM_001001420.3:c.949G>C	NP_001001420.1:p.Val317Leu