Canonical Allele Identifier: CA490909053
Gene: SMAD6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.67073486G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781148G>C , CM000677.2:g.66781148G>C GRCh38
NC_000015.9:g.67073486G>C , CM000677.1:g.67073486G>C GRCh37
NC_000015.8:g.64860540G>C NCBI36
NG_012244.1:g.83813G>C
NG_012244.2:g.83813G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1104G>C MANE Select ENSP00000288840.5:p.Leu368=
ENST00000288840.9:c.1104G>C ENSP00000288840.5:p.Leu368=
ENST00000557916.5:c.1236G>C ENSP00000452955.1:n.1236G>C
ENST00000559931.5:c.408G>C ENSP00000453446.1:n.408G>C
NM_005585.4:c.1104G>C NP_005576.3:p.Leu368=
NR_027654.1:n.2159G>C
XM_011521561.1:c.321G>C XP_011519863.1:p.Leu107=
XR_931825.1:n.2503G>C
XM_011521561.2:c.321G>C XP_011519863.1:p.Leu107=
NM_005585.5:c.1104G>C MANE Select NP_005576.3:p.Leu368=
NR_027654.2:n.2259G>C