Canonical Allele Identifier: CA13042957

Linked Data

dbSNP Id: rs2150702
gnomAD v2: 9-5893861-G-A
gnomAD v3: 9-5893861-G-A
gnomAD v4: 9-5893861-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.5893861G>A , CM000671.2:g.5893861G>A GRCh38
NC_000009.11:g.5893861G>A , CM000671.1:g.5893861G>A GRCh37
NC_000009.10:g.5883861G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000381477.8:c.77+1310G>A (MLANA) MANE Select ENSP00000370886.3:n.77+1310G>A
ENST00000381471.1:c.77+1310G>A (MLANA) ENSP00000370880.1:n.77+1310G>A
ENST00000381476.5:c.77+1310G>A (MLANA) ENSP00000370885.1:n.77+1310G>A
ENST00000381477.7:c.77+1310G>A (MLANA) ENSP00000370886.3:n.77+1310G>A
ENST00000436015.6:c.853-12186C>T (BRD10)
ENST00000482341.1:n.41+1310G>A (MLANA)
NM_005511.1:c.77+1310G>A (MLANA) NP_005502.1:n.77+1310G>A
XM_011517760.1:c.*50-821C>T (BRD10) XP_011516062.1:n.*50-821C>T
XR_929192.1:n.6443-12186C>T (BRD10)
XR_929193.1:n.6443-12186C>T (BRD10)
XR_929194.1:n.6443-12186C>T (BRD10)
XR_929195.1:n.6443-12186C>T (BRD10)
XR_929196.1:n.6443-12186C>T (BRD10)
XR_929197.1:n.6443-12186C>T (BRD10)
XR_929198.1:n.6238-12186C>T (BRD10)
XR_929199.1:n.6145-12186C>T (BRD10)
XM_011517760.3:c.*50-821C>T (BRD10) XP_011516062.1:n.*50-821C>T
XR_001746198.2:n.6359-821C>T (BRD10)
XR_001746199.2:n.6247-12186C>T (BRD10)
XR_001746200.2:n.6154-12186C>T (BRD10)
XR_001746201.2:n.4391-12186C>T (BRD10)
XR_001746202.2:n.4186-12186C>T (BRD10)
XR_001746203.2:n.3686-12186C>T (BRD10)
XR_001746204.2:n.3309-12186C>T (BRD10)
XR_001746205.2:n.3514-12186C>T (BRD10)
XR_929192.3:n.6452-12186C>T (BRD10)
XR_929193.3:n.6452-12186C>T (BRD10)
XR_929197.3:n.6452-12186C>T (BRD10)
NM_005511.2:c.77+1310G>A (MLANA) MANE Select NP_005502.1:n.77+1310G>A