Canonical Allele Identifier: CA490909050
Gene: SMAD6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.67073484C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781146C>T , CM000677.2:g.66781146C>T GRCh38
NC_000015.9:g.67073484C>T , CM000677.1:g.67073484C>T GRCh37
NC_000015.8:g.64860538C>T NCBI36
NG_012244.1:g.83811C>T
NG_012244.2:g.83811C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1102C>T MANE Select ENSP00000288840.5:p.Leu368=
ENST00000288840.9:c.1102C>T ENSP00000288840.5:p.Leu368=
ENST00000557916.5:c.1234C>T ENSP00000452955.1:n.1234C>T
ENST00000559931.5:c.406C>T ENSP00000453446.1:n.406C>T
NM_005585.4:c.1102C>T NP_005576.3:p.Leu368=
NR_027654.1:n.2157C>T
XM_011521561.1:c.319C>T XP_011519863.1:p.Leu107=
XR_931825.1:n.2501C>T
XM_011521561.2:c.319C>T XP_011519863.1:p.Leu107=
NM_005585.5:c.1102C>T MANE Select NP_005576.3:p.Leu368=
NR_027654.2:n.2257C>T