Canonical Allele Identifier: CA128079696

Gene: SMAD5

Linked Data

• dbSNP Id: rs538783015
• gnomAD v4: 5-136181494-G-T
• MyVariant Identifiers: chr5:g.135517182G>T (hg19) ; chr5:g.136181494G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136181494G>T , CM000667.2:g.136181494G>T	GRCh38
NC_000005.9:g.135517182G>T , CM000667.1:g.135517182G>T	GRCh37
NC_000005.8:g.135545081G>T	NCBI36
NG_032037.1:g.53648G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545279.6:c.*4014G>T MANE Select	ENSP00000441954.2:n.*4014G>T
ENST00000513418.1:c.165-5667G>T
ENST00000545279.5:c.*4014G>T	ENSP00000441954.2:n.*4014G>T
ENST00000545620.5:c.*4014G>T	ENSP00000446474.2:n.*4014G>T
NM_001001419.2:c.*4014G>T	NP_001001419.1:n.*4014G>T
NM_001001420.2:c.*4014G>T	NP_001001420.1:n.*4014G>T
NM_005903.6:c.*4014G>T	NP_005894.3:n.*4014G>T
XM_017009470.2:c.*4014G>T	XP_016864959.1:n.*4014G>T
XM_024446046.1:c.*4014G>T	XP_024301814.1:n.*4014G>T
XM_024446047.1:c.*4014G>T	XP_024301815.1:n.*4014G>T
NM_005903.7:c.*4014G>T MANE Select	NP_005894.3:n.*4014G>T
NM_001001419.3:c.*4014G>T	NP_001001419.1:n.*4014G>T
NM_001001420.3:c.*4014G>T	NP_001001420.1:n.*4014G>T