Canonical Allele Identifier: CA823989165

Linked Data

dbSNP Id: rs1223389659
gnomAD v3: 6-32847258-G-A
gnomAD v4: 6-32847258-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847258G>A , CM000668.2:g.32847258G>A GRCh38
NC_000006.11:g.32815035G>A , CM000668.1:g.32815035G>A GRCh37
NC_000006.10:g.32923013G>A NCBI36
NG_011759.1:g.11714C>T
NG_028165.1:g.2678C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1056-54C>T (TAP1) ENSP00000513708.1:n.*1056-54C>T
ENST00000698421.1:c.*798-54C>T (TAP1) ENSP00000513709.1:n.*798-54C>T
ENST00000698422.1:c.1715-54C>T (TAP1) ENSP00000513710.1:n.1715-54C>T
ENST00000698423.1:c.1904-54C>T (TAP1) ENSP00000513711.1:n.1904-54C>T
ENST00000698424.1:c.1775-54C>T (TAP1) ENSP00000513712.1:n.1775-54C>T
ENST00000354258.5:c.1904-54C>T (TAP1) MANE Select ENSP00000346206.5:n.1904-54C>T
ENST00000643049.2:c.449-54C>T (TAP1) ENSP00000494148.2:n.449-54C>T
ENST00000643923.1:n.1340-54C>T (TAP1)
ENST00000645078.1:n.1499-54C>T (TAP1)
ENST00000354258.4:c.2084-54C>T (TAP1) ENSP00000346206.4:n.2084-54C>T
ENST00000395330.5:c.-10+2984G>A (PSMB9) ENSP00000378739.1:n.-10+2984G>A
ENST00000414474.5:c.-10+2388G>A (PSMB9) ENSP00000394363.1:n.-10+2388G>A
ENST00000486332.1:n.1829-54C>T (TAP1)
ENST00000487296.1:n.730C>T (TAP1)
NM_000593.5:c.2084-54C>T (TAP1) NP_000584.2:n.2084-54C>T
NM_001292022.1:c.1301-54C>T (TAP1) NP_001278951.1:n.1301-54C>T
NM_001292022.2:c.1301-54C>T (TAP1) NP_001278951.1:n.1301-54C>T
NM_000593.6:c.1904-54C>T (TAP1) MANE Select NP_000584.3:n.1904-54C>T