Canonical Allele Identifier: CA387852918

Gene: SMAD9

Linked Data

• gnomAD v4: 13-36879475-G-A
• MyVariant Identifiers: chr13:g.37453612G>A (hg19) ; chr13:g.36879475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36879475G>A , CM000675.2:g.36879475G>A	GRCh38
NC_000013.10:g.37453612G>A , CM000675.1:g.37453612G>A	GRCh37
NC_000013.9:g.36351612G>A	NCBI36
NG_016963.1:g.45798C>T , LRG_703:g.45798C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000483941.2:n.654C>T
ENST00000350148.10:c.215C>T	ENSP00000239885.6:p.Pro72Leu
ENST00000379826.5:c.215C>T MANE Select	ENSP00000369154.4:p.Pro72Leu
ENST00000399275.7:c.215C>T	ENSP00000382216.3:p.Pro72Leu
ENST00000350148.9:c.215C>T	ENSP00000239885.6:p.Pro72Leu
ENST00000379826.4:c.215C>T	ENSP00000369154.4:p.Pro72Leu
ENST00000399275.6:c.215C>T	ENSP00000382216.2:p.Pro72Leu
ENST00000483941.1:n.532C>T
NM_001127217.2:c.215C>T , LRG_703t1:c.215C>T	NP_001120689.1:p.Pro72Leu
NM_005905.5:c.215C>T	NP_005896.1:p.Pro72Leu
XM_005266401.2:c.215C>T	XP_005266458.1:p.Pro72Leu
XM_005266403.2:c.215C>T	XP_005266460.1:p.Pro72Leu
XM_005266404.2:c.215C>T	XP_005266461.1:p.Pro72Leu
XM_006719827.2:c.215C>T	XP_006719890.1:p.Pro72Leu
XM_011535096.1:c.215C>T	XP_011533398.1:p.Pro72Leu
XM_005266401.3:c.215C>T	XP_005266458.1:p.Pro72Leu
XM_005266403.3:c.215C>T	XP_005266460.1:p.Pro72Leu
XM_005266404.3:c.215C>T	XP_005266461.1:p.Pro72Leu
XM_006719827.3:c.215C>T	XP_006719890.1:p.Pro72Leu
NM_001127217.3:c.215C>T MANE Select	NP_001120689.1:p.Pro72Leu
NM_005905.6:c.215C>T	NP_005896.1:p.Pro72Leu
NM_001378621.1:c.215C>T	NP_001365550.1:p.Pro72Leu