Canonical Allele Identifier: CA7626637

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66716433C>T , CM000677.2:g.66716433C>T	GRCh38
NC_000015.9:g.67008771C>T , CM000677.1:g.67008771C>T	GRCh37
NC_000015.8:g.64795825C>T	NCBI36
NG_012244.1:g.19098C>T
NG_012244.2:g.19098C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005585.5:c.887C>T MANE Select	NP_005576.3:p.Ser296Phe
ENST00000288840.10:c.887C>T MANE Select	ENSP00000288840.5:p.Ser296Phe
NM_005585.4:c.887C>T	NP_005576.3:p.Ser296Phe
NR_027654.1:n.1810C>T
NR_027654.2:n.1910C>T
ENST00000288840.9:c.887C>T	ENSP00000288840.5:p.Ser296Phe
ENST00000557916.5:c.887C>T	ENSP00000452955.1:p.Ser296Phe
ENST00000558937.1:c.41C>T	ENSP00000452694.1:p.Ser14Phe
ENST00000559931.5:c.62C>T	ENSP00000453446.1:p.Ser21Phe
XM_011521561.1:c.104C>T	XP_011519863.1:p.Ser35Phe
XM_011521561.2:c.104C>T	XP_011519863.1:p.Ser35Phe
XR_931825.1:n.2286C>T
XR_931826.1:n.2365C>T
XR_931827.1:n.2125C>T
XR_931827.2:n.2115C>T