Canonical Allele Identifier: CA272018785

Gene: SMAD6

Linked Data

• dbSNP Id: rs553317970
• gnomAD v2: 15-67066608-A-T
• gnomAD v3: 15-66774270-A-T
• gnomAD v4: 15-66774270-A-T
• MyVariant Identifiers: chr15:g.67066608A>T (hg19) ; chr15:g.66774270A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66774270A>T , CM000677.2:g.66774270A>T	GRCh38
NC_000015.9:g.67066608A>T , CM000677.1:g.67066608A>T	GRCh37
NC_000015.8:g.64853662A>T	NCBI36
NG_012244.1:g.76935A>T
NG_012244.2:g.76935A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-6727A>T MANE Select	ENSP00000288840.5:n.953-6727A>T
ENST00000288840.9:c.953-6727A>T	ENSP00000288840.5:n.953-6727A>T
ENST00000557916.5:c.1085-6727A>T	ENSP00000452955.1:n.1085-6727A>T
ENST00000559931.5:c.257-6727A>T	ENSP00000453446.1:n.257-6727A>T
NM_005585.4:c.953-6727A>T	NP_005576.3:n.953-6727A>T
NR_027654.1:n.2008-6727A>T
XM_011521561.1:c.170-6727A>T	XP_011519863.1:n.170-6727A>T
XR_931825.1:n.2352-6727A>T
XM_011521561.2:c.170-6727A>T	XP_011519863.1:n.170-6727A>T
NM_005585.5:c.953-6727A>T MANE Select	NP_005576.3:n.953-6727A>T
NR_027654.2:n.2108-6727A>T