Canonical Allele Identifier: CA393201830

Gene: SMAD6

Linked Data

• dbSNP Id: rs1479523721
• gnomAD v3: 15-66781130-G-C
• gnomAD v4: 15-66781130-G-C
• MyVariant Identifiers: chr15:g.67073468G>C (hg19) ; chr15:g.66781130G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781130G>C , CM000677.2:g.66781130G>C	GRCh38
NC_000015.9:g.67073468G>C , CM000677.1:g.67073468G>C	GRCh37
NC_000015.8:g.64860522G>C	NCBI36
NG_012244.1:g.83795G>C
NG_012244.2:g.83795G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1086G>C MANE Select	ENSP00000288840.5:p.Gln362His
ENST00000288840.9:c.1086G>C	ENSP00000288840.5:p.Gln362His
ENST00000557916.5:c.1218G>C	ENSP00000452955.1:n.1218G>C
ENST00000559931.5:c.390G>C	ENSP00000453446.1:n.390G>C
NM_005585.4:c.1086G>C	NP_005576.3:p.Gln362His
NR_027654.1:n.2141G>C
XM_011521561.1:c.303G>C	XP_011519863.1:p.Gln101His
XR_931825.1:n.2485G>C
XM_011521561.2:c.303G>C	XP_011519863.1:p.Gln101His
NM_005585.5:c.1086G>C MANE Select	NP_005576.3:p.Gln362His
NR_027654.2:n.2241G>C