Canonical Allele Identifier: CA393201599

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781023-A-C
• MyVariant Identifiers: chr15:g.67073361A>C (hg19) ; chr15:g.66781023A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781023A>C , CM000677.2:g.66781023A>C	GRCh38
NC_000015.9:g.67073361A>C , CM000677.1:g.67073361A>C	GRCh37
NC_000015.8:g.64860415A>C	NCBI36
NG_012244.1:g.83688A>C
NG_012244.2:g.83688A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.979A>C MANE Select	ENSP00000288840.5:p.Lys327Gln
ENST00000288840.9:c.979A>C	ENSP00000288840.5:p.Lys327Gln
ENST00000557916.5:c.1111A>C	ENSP00000452955.1:n.1111A>C
ENST00000559931.5:c.283A>C	ENSP00000453446.1:n.283A>C
NM_005585.4:c.979A>C	NP_005576.3:p.Lys327Gln
NR_027654.1:n.2034A>C
XM_011521561.1:c.196A>C	XP_011519863.1:p.Lys66Gln
XR_931825.1:n.2378A>C
XM_011521561.2:c.196A>C	XP_011519863.1:p.Lys66Gln
NM_005585.5:c.979A>C MANE Select	NP_005576.3:p.Lys327Gln
NR_027654.2:n.2134A>C