Canonical Allele Identifier: CA69854821

Linked Data

dbSNP Id: rs199863573
gnomAD v2: 3-8810317-C-T
gnomAD v3: 3-8768631-C-T
gnomAD v4: 3-8768631-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8768631C>T , CM000665.2:g.8768631C>T GRCh38
NC_000003.11:g.8810317C>T , CM000665.1:g.8810317C>T GRCh37
NC_000003.10:g.8785317C>T NCBI36
NG_008797.2:g.39822C>T , LRG_329:g.39822C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000316793.8:c.-238-40G>A (OXTR) MANE Select ENSP00000324270.2:n.-238-40G>A
ENST00000316793.7:c.-238-40G>A (OXTR) ENSP00000324270.2:n.-238-40G>A
ENST00000431493.1:c.-238-40G>A (OXTR) ENSP00000414828.1:n.-238-40G>A
ENST00000449615.1:c.-278G>A (OXTR) ENSP00000389587.1:n.-278G>A
ENST00000472766.1:n.156-8846C>T (CAV3)
ENST00000474615.1:n.384-40G>A (OXTR)
NM_000916.3:c.-238-40G>A (OXTR) NP_000907.2:n.-238-40G>A
XM_011533762.1:c.-238-40G>A (OXTR) XP_011532064.1:n.-238-40G>A
XM_011533763.1:c.-238-40G>A (OXTR) XP_011532065.1:n.-238-40G>A
NM_001354653.1:c.-238-40G>A (OXTR) NP_001341582.1:n.-238-40G>A
NM_001354654.1:c.-238-40G>A (OXTR) NP_001341583.1:n.-238-40G>A
NM_001354655.1:c.-238-40G>A (OXTR) NP_001341584.1:n.-238-40G>A
NM_001354656.1:c.-238-40G>A (OXTR) NP_001341585.1:n.-238-40G>A
NM_001354656.2:c.-238-40G>A (OXTR) NP_001341585.1:n.-238-40G>A
NM_000916.4:c.-238-40G>A (OXTR) MANE Select NP_000907.2:n.-238-40G>A
NM_001354653.2:c.-238-40G>A (OXTR) NP_001341582.1:n.-238-40G>A
NM_001354654.2:c.-238-40G>A (OXTR) NP_001341583.1:n.-238-40G>A
NM_001354655.2:c.-238-40G>A (OXTR) NP_001341584.1:n.-238-40G>A
NM_001354656.3:c.-238-40G>A (OXTR) NP_001341585.1:n.-238-40G>A