Canonical Allele Identifier: CA361037112

Gene: SMAD5

Linked Data

• gnomAD v4: 5-136154164-G-T
• MyVariant Identifiers: chr5:g.135489853G>T (hg19) ; chr5:g.136154164G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136154164G>T , CM000667.2:g.136154164G>T	GRCh38
NC_000005.9:g.135489853G>T , CM000667.1:g.135489853G>T	GRCh37
NC_000005.8:g.135517752G>T	NCBI36
NG_032037.1:g.26318G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509297.6:c.403+1G>T	ENSP00000426696.2:n.403+1G>T
ENST00000545279.6:c.403+1G>T MANE Select	ENSP00000441954.2:n.403+1G>T
ENST00000514777.1:n.60-18270G>T
ENST00000545279.5:c.403+1G>T	ENSP00000441954.2:n.403+1G>T
ENST00000545620.5:c.403+1G>T	ENSP00000446474.2:n.403+1G>T
NM_001001419.2:c.403+1G>T	NP_001001419.1:n.403+1G>T
NM_001001420.2:c.403+1G>T	NP_001001420.1:n.403+1G>T
NM_005903.6:c.403+1G>T	NP_005894.3:n.403+1G>T
XR_948810.1:n.1973+1263C>A
XM_017009470.2:c.403+1G>T	XP_016864959.1:n.403+1G>T
XM_024446046.1:c.403+1G>T	XP_024301814.1:n.403+1G>T
XM_024446047.1:c.403+1G>T	XP_024301815.1:n.403+1G>T
NM_005903.7:c.403+1G>T MANE Select	NP_005894.3:n.403+1G>T
NM_001001419.3:c.403+1G>T	NP_001001419.1:n.403+1G>T
NM_001001420.3:c.403+1G>T	NP_001001420.1:n.403+1G>T