Canonical Allele Identifier: CA490908913

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781061-C-T
• COSMIC: COSM4848887
• MyVariant Identifiers: chr15:g.67073399C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781061C>T , CM000677.2:g.66781061C>T	GRCh38
NC_000015.9:g.67073399C>T , CM000677.1:g.67073399C>T	GRCh37
NC_000015.8:g.64860453C>T	NCBI36
NG_012244.1:g.83726C>T
NG_012244.2:g.83726C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1017C>T MANE Select	ENSP00000288840.5:p.His339=
ENST00000288840.9:c.1017C>T	ENSP00000288840.5:p.His339=
ENST00000557916.5:c.1149C>T	ENSP00000452955.1:n.1149C>T
ENST00000559931.5:c.321C>T	ENSP00000453446.1:n.321C>T
NM_005585.4:c.1017C>T	NP_005576.3:p.His339=
NR_027654.1:n.2072C>T
XM_011521561.1:c.234C>T	XP_011519863.1:p.His78=
XR_931825.1:n.2416C>T
XM_011521561.2:c.234C>T	XP_011519863.1:p.His78=
NM_005585.5:c.1017C>T MANE Select	NP_005576.3:p.His339=
NR_027654.2:n.2172C>T