Canonical Allele Identifier: CA393201575
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1399783
ClinVar RCV Id: RCV001917858 RCV002554329
dbSNP Id: rs1292983568
gnomAD v2: 15-67073349-C-T
gnomAD v4: 15-66781011-C-T
MyVariant Identifiers: chr15:g.67073349C>T (hg19) chr15:g.66781011C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781011C>T , CM000677.2:g.66781011C>T GRCh38
NC_000015.9:g.67073349C>T , CM000677.1:g.67073349C>T GRCh37
NC_000015.8:g.64860403C>T NCBI36
NG_012244.1:g.83676C>T
NG_012244.2:g.83676C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.967C>T MANE Select ENSP00000288840.5:p.Pro323Ser
ENST00000288840.9:c.967C>T ENSP00000288840.5:p.Pro323Ser
ENST00000557916.5:c.1099C>T ENSP00000452955.1:n.1099C>T
ENST00000559931.5:c.271C>T ENSP00000453446.1:n.271C>T
NM_005585.4:c.967C>T NP_005576.3:p.Pro323Ser
NR_027654.1:n.2022C>T
XM_011521561.1:c.184C>T XP_011519863.1:p.Pro62Ser
XR_931825.1:n.2366C>T
XM_011521561.2:c.184C>T XP_011519863.1:p.Pro62Ser
NM_005585.5:c.967C>T MANE Select NP_005576.3:p.Pro323Ser
NR_027654.2:n.2122C>T
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