Canonical Allele Identifier: CA393201705

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781071-G-C
• MyVariant Identifiers: chr15:g.67073409G>C (hg19) ; chr15:g.66781071G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781071G>C , CM000677.2:g.66781071G>C	GRCh38
NC_000015.9:g.67073409G>C , CM000677.1:g.67073409G>C	GRCh37
NC_000015.8:g.64860463G>C	NCBI36
NG_012244.1:g.83736G>C
NG_012244.2:g.83736G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1027G>C MANE Select	ENSP00000288840.5:p.Val343Leu
ENST00000288840.9:c.1027G>C	ENSP00000288840.5:p.Val343Leu
ENST00000557916.5:c.1159G>C	ENSP00000452955.1:n.1159G>C
ENST00000559931.5:c.331G>C	ENSP00000453446.1:n.331G>C
NM_005585.4:c.1027G>C	NP_005576.3:p.Val343Leu
NR_027654.1:n.2082G>C
XM_011521561.1:c.244G>C	XP_011519863.1:p.Val82Leu
XR_931825.1:n.2426G>C
XM_011521561.2:c.244G>C	XP_011519863.1:p.Val82Leu
NM_005585.5:c.1027G>C MANE Select	NP_005576.3:p.Val343Leu
NR_027654.2:n.2182G>C