Canonical Allele Identifier: CA393201548

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66780999-G-T
• MyVariant Identifiers: chr15:g.67073337G>T (hg19) ; chr15:g.66780999G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780999G>T , CM000677.2:g.66780999G>T	GRCh38
NC_000015.9:g.67073337G>T , CM000677.1:g.67073337G>T	GRCh37
NC_000015.8:g.64860391G>T	NCBI36
NG_012244.1:g.83664G>T
NG_012244.2:g.83664G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.955G>T MANE Select	ENSP00000288840.5:p.Ala319Ser
ENST00000288840.9:c.955G>T	ENSP00000288840.5:p.Ala319Ser
ENST00000557916.5:c.1087G>T	ENSP00000452955.1:n.1087G>T
ENST00000559931.5:c.259G>T	ENSP00000453446.1:n.259G>T
NM_005585.4:c.955G>T	NP_005576.3:p.Ala319Ser
NR_027654.1:n.2010G>T
XM_011521561.1:c.172G>T	XP_011519863.1:p.Ala58Ser
XR_931825.1:n.2354G>T
XM_011521561.2:c.172G>T	XP_011519863.1:p.Ala58Ser
NM_005585.5:c.955G>T MANE Select	NP_005576.3:p.Ala319Ser
NR_027654.2:n.2110G>T