Canonical Allele Identifier: CA272023098

Gene: SMAD6

Linked Data

• dbSNP Id: rs376190117
• gnomAD v3: 15-66780937-C-T
• gnomAD v4: 15-66780937-C-T
• MyVariant Identifiers: chr15:g.67073275C>T (hg19) ; chr15:g.66780937C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780937C>T , CM000677.2:g.66780937C>T	GRCh38
NC_000015.9:g.67073275C>T , CM000677.1:g.67073275C>T	GRCh37
NC_000015.8:g.64860329C>T	NCBI36
NG_012244.1:g.83602C>T
NG_012244.2:g.83602C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-60C>T MANE Select	ENSP00000288840.5:n.953-60C>T
ENST00000288840.9:c.953-60C>T	ENSP00000288840.5:n.953-60C>T
ENST00000557916.5:c.1085-60C>T	ENSP00000452955.1:n.1085-60C>T
ENST00000559931.5:c.257-60C>T	ENSP00000453446.1:n.257-60C>T
NM_005585.4:c.953-60C>T	NP_005576.3:n.953-60C>T
NR_027654.1:n.2008-60C>T
XM_011521561.1:c.170-60C>T	XP_011519863.1:n.170-60C>T
XR_931825.1:n.2352-60C>T
XM_011521561.2:c.170-60C>T	XP_011519863.1:n.170-60C>T
NM_005585.5:c.953-60C>T MANE Select	NP_005576.3:n.953-60C>T
NR_027654.2:n.2108-60C>T