Canonical Allele Identifier: CA3746653

Linked Data

dbSNP Id: rs111511638
gnomAD v2: 6-32815025-G-A
gnomAD v3: 6-32847248-G-A
gnomAD v4: 6-32847248-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847248G>A , CM000668.2:g.32847248G>A GRCh38
NC_000006.11:g.32815025G>A , CM000668.1:g.32815025G>A GRCh37
NC_000006.10:g.32923003G>A NCBI36
NG_011759.1:g.11724C>T
NG_028165.1:g.2688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1056-44C>T (TAP1) ENSP00000513708.1:n.*1056-44C>T
ENST00000698421.1:c.*798-44C>T (TAP1) ENSP00000513709.1:n.*798-44C>T
ENST00000698422.1:c.1715-44C>T (TAP1) ENSP00000513710.1:n.1715-44C>T
ENST00000698423.1:c.1904-44C>T (TAP1) ENSP00000513711.1:n.1904-44C>T
ENST00000698424.1:c.1775-44C>T (TAP1) ENSP00000513712.1:n.1775-44C>T
ENST00000354258.5:c.1904-44C>T (TAP1) MANE Select ENSP00000346206.5:n.1904-44C>T
ENST00000643049.2:c.449-44C>T (TAP1) ENSP00000494148.2:n.449-44C>T
ENST00000643923.1:n.1340-44C>T (TAP1)
ENST00000645078.1:n.1499-44C>T (TAP1)
ENST00000354258.4:c.2084-44C>T (TAP1) ENSP00000346206.4:n.2084-44C>T
ENST00000395330.5:c.-10+2974G>A (PSMB9) ENSP00000378739.1:n.-10+2974G>A
ENST00000414474.5:c.-10+2378G>A (PSMB9) ENSP00000394363.1:n.-10+2378G>A
ENST00000486332.1:n.1829-44C>T (TAP1)
ENST00000487296.1:n.740C>T (TAP1)
NM_000593.5:c.2084-44C>T (TAP1) NP_000584.2:n.2084-44C>T
NM_001292022.1:c.1301-44C>T (TAP1) NP_001278951.1:n.1301-44C>T
NM_001292022.2:c.1301-44C>T (TAP1) NP_001278951.1:n.1301-44C>T
NM_000593.6:c.1904-44C>T (TAP1) MANE Select NP_000584.3:n.1904-44C>T