Canonical Allele Identifier: CA128098919

Gene: SMAD5

Linked Data

• dbSNP Id: rs924294182
• gnomAD v3: 5-136154234-C-G
• gnomAD v4: 5-136154234-C-G
• MyVariant Identifiers: chr5:g.135489923C>G (hg19) ; chr5:g.136154234C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136154234C>G , CM000667.2:g.136154234C>G	GRCh38
NC_000005.9:g.135489923C>G , CM000667.1:g.135489923C>G	GRCh37
NC_000005.8:g.135517822C>G	NCBI36
NG_032037.1:g.26388C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509297.6:c.403+71C>G	ENSP00000426696.2:n.403+71C>G
ENST00000545279.6:c.403+71C>G MANE Select	ENSP00000441954.2:n.403+71C>G
ENST00000514777.1:n.60-18200C>G
ENST00000545279.5:c.403+71C>G	ENSP00000441954.2:n.403+71C>G
ENST00000545620.5:c.403+71C>G	ENSP00000446474.2:n.403+71C>G
NM_001001419.2:c.403+71C>G	NP_001001419.1:n.403+71C>G
NM_001001420.2:c.403+71C>G	NP_001001420.1:n.403+71C>G
NM_005903.6:c.403+71C>G	NP_005894.3:n.403+71C>G
XR_948810.1:n.1973+1193G>C
XM_017009470.2:c.403+71C>G	XP_016864959.1:n.403+71C>G
XM_024446046.1:c.403+71C>G	XP_024301814.1:n.403+71C>G
XM_024446047.1:c.403+71C>G	XP_024301815.1:n.403+71C>G
NM_005903.7:c.403+71C>G MANE Select	NP_005894.3:n.403+71C>G
NM_001001419.3:c.403+71C>G	NP_001001419.1:n.403+71C>G
NM_001001420.3:c.403+71C>G	NP_001001420.1:n.403+71C>G