Canonical Allele Identifier: CA7626691

Gene: SMAD6

Linked Data

• dbSNP Id: rs542439720
• ExAC: 15:67073308 G / C
• gnomAD v2: 15-67073308-G-C
• gnomAD v3: 15-66780970-G-C
• gnomAD v4: 15-66780970-G-C
• MyVariant Identifiers: chr15:g.67073308G>C (hg19) ; chr15:g.66780970G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780970G>C , CM000677.2:g.66780970G>C	GRCh38
NC_000015.9:g.67073308G>C , CM000677.1:g.67073308G>C	GRCh37
NC_000015.8:g.64860362G>C	NCBI36
NG_012244.1:g.83635G>C
NG_012244.2:g.83635G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-27G>C MANE Select	ENSP00000288840.5:n.953-27G>C
ENST00000288840.9:c.953-27G>C	ENSP00000288840.5:n.953-27G>C
ENST00000557916.5:c.1085-27G>C	ENSP00000452955.1:n.1085-27G>C
ENST00000559931.5:c.257-27G>C	ENSP00000453446.1:n.257-27G>C
NM_005585.4:c.953-27G>C	NP_005576.3:n.953-27G>C
NR_027654.1:n.2008-27G>C
XM_011521561.1:c.170-27G>C	XP_011519863.1:n.170-27G>C
XR_931825.1:n.2352-27G>C
XM_011521561.2:c.170-27G>C	XP_011519863.1:n.170-27G>C
NM_005585.5:c.953-27G>C MANE Select	NP_005576.3:n.953-27G>C
NR_027654.2:n.2108-27G>C