Canonical Allele Identifier: CA2804555448

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780914G>C , CM000677.2:g.66780914G>C	GRCh38
NC_000015.9:g.67073252G>C , CM000677.1:g.67073252G>C	GRCh37
NC_000015.8:g.64860306G>C	NCBI36
NG_012244.1:g.83579G>C
NG_012244.2:g.83579G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-83G>C MANE Select	ENSP00000288840.5:n.953-83G>C
ENST00000288840.9:c.953-83G>C	ENSP00000288840.5:n.953-83G>C
ENST00000557916.5:c.1085-83G>C	ENSP00000452955.1:n.1085-83G>C
ENST00000559931.5:c.257-83G>C	ENSP00000453446.1:n.257-83G>C
NM_005585.4:c.953-83G>C	NP_005576.3:n.953-83G>C
NR_027654.1:n.2008-83G>C
XM_011521561.1:c.170-83G>C	XP_011519863.1:n.170-83G>C
XR_931825.1:n.2352-83G>C
XM_011521561.2:c.170-83G>C	XP_011519863.1:n.170-83G>C
NM_005585.5:c.953-83G>C MANE Select	NP_005576.3:n.953-83G>C
NR_027654.2:n.2108-83G>C