Canonical Allele Identifier: CA490908862

Gene: SMAD6

Linked Data

• dbSNP Id: rs1226001558
• gnomAD v2: 15-67073351-G-C
• gnomAD v4: 15-66781013-G-C
• MyVariant Identifiers: chr15:g.67073351G>C (hg19) ; chr15:g.66781013G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781013G>C , CM000677.2:g.66781013G>C	GRCh38
NC_000015.9:g.67073351G>C , CM000677.1:g.67073351G>C	GRCh37
NC_000015.8:g.64860405G>C	NCBI36
NG_012244.1:g.83678G>C
NG_012244.2:g.83678G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.969G>C MANE Select	ENSP00000288840.5:p.Pro323=
ENST00000288840.9:c.969G>C	ENSP00000288840.5:p.Pro323=
ENST00000557916.5:c.1101G>C	ENSP00000452955.1:n.1101G>C
ENST00000559931.5:c.273G>C	ENSP00000453446.1:n.273G>C
NM_005585.4:c.969G>C	NP_005576.3:p.Pro323=
NR_027654.1:n.2024G>C
XM_011521561.1:c.186G>C	XP_011519863.1:p.Pro62=
XR_931825.1:n.2368G>C
XM_011521561.2:c.186G>C	XP_011519863.1:p.Pro62=
NM_005585.5:c.969G>C MANE Select	NP_005576.3:p.Pro323=
NR_027654.2:n.2124G>C