Canonical Allele Identifier: CA7626764
Gene: SMAD6 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.66781288C>G
GRCh37 chr15:g.67073626C>G
Revel Score:
ENST00000288840 (MANE Select) 0.868
ENST00000338426 0.868
gnomAD v2:
15:67073626 C / G
gnomAD v4:
chr15-66781288-C-G
Joint Max Group AF 0.00009206 (SAS)
Exomes Max Group AF 0.00009804 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781288C>G , CM000677.2:g.66781288C>G GRCh38
NC_000015.9:g.67073626C>G , CM000677.1:g.67073626C>G GRCh37
NC_000015.8:g.64860680C>G NCBI36
NG_012244.1:g.83953C>G
NG_012244.2:g.83953C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1244C>G MANE Select ENSP00000288840.5:p.Pro415Arg
ENST00000288840.9:c.1244C>G ENSP00000288840.5:p.Pro415Arg
ENST00000557916.5:c.1376C>G ENSP00000452955.1:n.1376C>G
ENST00000559931.5:c.548C>G ENSP00000453446.1:n.548C>G
NM_005585.4:c.1244C>G NP_005576.3:p.Pro415Arg
NR_027654.1:n.2299C>G
XM_011521561.1:c.461C>G XP_011519863.1:p.Pro154Arg
XR_931825.1:n.2643C>G
XM_011521561.2:c.461C>G XP_011519863.1:p.Pro154Arg
NM_005585.5:c.1244C>G MANE Select NP_005576.3:p.Pro415Arg
NR_027654.2:n.2399C>G
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