Canonical Allele Identifier: CA393201739

Gene: SMAD6

Linked Data

• dbSNP Id: rs1471656357
• gnomAD v2: 15-67073425-C-T
• gnomAD v4: 15-66781087-C-T
• MyVariant Identifiers: chr15:g.67073425C>T (hg19) ; chr15:g.66781087C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781087C>T , CM000677.2:g.66781087C>T	GRCh38
NC_000015.9:g.67073425C>T , CM000677.1:g.67073425C>T	GRCh37
NC_000015.8:g.64860479C>T	NCBI36
NG_012244.1:g.83752C>T
NG_012244.2:g.83752C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1043C>T MANE Select	ENSP00000288840.5:p.Ala348Val
ENST00000288840.9:c.1043C>T	ENSP00000288840.5:p.Ala348Val
ENST00000557916.5:c.1175C>T	ENSP00000452955.1:n.1175C>T
ENST00000559931.5:c.347C>T	ENSP00000453446.1:n.347C>T
NM_005585.4:c.1043C>T	NP_005576.3:p.Ala348Val
NR_027654.1:n.2098C>T
XM_011521561.1:c.260C>T	XP_011519863.1:p.Ala87Val
XR_931825.1:n.2442C>T
XM_011521561.2:c.260C>T	XP_011519863.1:p.Ala87Val
NM_005585.5:c.1043C>T MANE Select	NP_005576.3:p.Ala348Val
NR_027654.2:n.2198C>T