Canonical Allele Identifier: CA393201808

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781119-G-T
• MyVariant Identifiers: chr15:g.67073457G>T (hg19) ; chr15:g.66781119G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781119G>T , CM000677.2:g.66781119G>T	GRCh38
NC_000015.9:g.67073457G>T , CM000677.1:g.67073457G>T	GRCh37
NC_000015.8:g.64860511G>T	NCBI36
NG_012244.1:g.83784G>T
NG_012244.2:g.83784G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1075G>T MANE Select	ENSP00000288840.5:p.Asp359Tyr
ENST00000288840.9:c.1075G>T	ENSP00000288840.5:p.Asp359Tyr
ENST00000557916.5:c.1207G>T	ENSP00000452955.1:n.1207G>T
ENST00000559931.5:c.379G>T	ENSP00000453446.1:n.379G>T
NM_005585.4:c.1075G>T	NP_005576.3:p.Asp359Tyr
NR_027654.1:n.2130G>T
XM_011521561.1:c.292G>T	XP_011519863.1:p.Asp98Tyr
XR_931825.1:n.2474G>T
XM_011521561.2:c.292G>T	XP_011519863.1:p.Asp98Tyr
NM_005585.5:c.1075G>T MANE Select	NP_005576.3:p.Asp359Tyr
NR_027654.2:n.2230G>T