Canonical Allele Identifier: CA7626721

Gene: SMAD6

Linked Data

• dbSNP Id: rs772695637
• ExAC: 15:67073454 T / C
• gnomAD v2: 15-67073454-T-C
• gnomAD v4: 15-66781116-T-C
• MyVariant Identifiers: chr15:g.67073454T>C (hg19) ; chr15:g.66781116T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781116T>C , CM000677.2:g.66781116T>C	GRCh38
NC_000015.9:g.67073454T>C , CM000677.1:g.67073454T>C	GRCh37
NC_000015.8:g.64860508T>C	NCBI36
NG_012244.1:g.83781T>C
NG_012244.2:g.83781T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1072T>C MANE Select	ENSP00000288840.5:p.Tyr358His
ENST00000288840.9:c.1072T>C	ENSP00000288840.5:p.Tyr358His
ENST00000557916.5:c.1204T>C	ENSP00000452955.1:n.1204T>C
ENST00000559931.5:c.376T>C	ENSP00000453446.1:n.376T>C
NM_005585.4:c.1072T>C	NP_005576.3:p.Tyr358His
NR_027654.1:n.2127T>C
XM_011521561.1:c.289T>C	XP_011519863.1:p.Tyr97His
XR_931825.1:n.2471T>C
XM_011521561.2:c.289T>C	XP_011519863.1:p.Tyr97His
NM_005585.5:c.1072T>C MANE Select	NP_005576.3:p.Tyr358His
NR_027654.2:n.2227T>C