Canonical Allele Identifier: CA393201644

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.67073379A>T (hg19) ; chr15:g.66781041A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781041A>T , CM000677.2:g.66781041A>T	GRCh38
NC_000015.9:g.67073379A>T , CM000677.1:g.67073379A>T	GRCh37
NC_000015.8:g.64860433A>T	NCBI36
NG_012244.1:g.83706A>T
NG_012244.2:g.83706A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.997A>T MANE Select	ENSP00000288840.5:p.Ser333Cys
ENST00000288840.9:c.997A>T	ENSP00000288840.5:p.Ser333Cys
ENST00000557916.5:c.1129A>T	ENSP00000452955.1:n.1129A>T
ENST00000559931.5:c.301A>T	ENSP00000453446.1:n.301A>T
NM_005585.4:c.997A>T	NP_005576.3:p.Ser333Cys
NR_027654.1:n.2052A>T
XM_011521561.1:c.214A>T	XP_011519863.1:p.Ser72Cys
XR_931825.1:n.2396A>T
XM_011521561.2:c.214A>T	XP_011519863.1:p.Ser72Cys
NM_005585.5:c.997A>T MANE Select	NP_005576.3:p.Ser333Cys
NR_027654.2:n.2152A>T