Canonical Allele Identifier: CA16621225
Gene: BCAP31 HGNC NCBI

Linked Data

ClinVar Variation Id: 419708
ClinVar RCV Id: RCV000485079 RCV000509475
dbSNP Id: rs1064794057
MyVariant Identifiers: chrX:g.152980995A>C (hg19) chrX:g.153715540A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153715540A>C , CM000685.2:g.153715540A>C GRCh38
NC_000023.10:g.152980995A>C , CM000685.1:g.152980995A>C GRCh37
NC_000023.9:g.152634189A>C NCBI36
NG_023231.1:g.14207T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000345046.12:c.341+2T>G MANE Select ENSP00000343458.6:n.341+2T>G
ENST00000458587.8:c.542+2T>G ENSP00000392330.2:n.542+2T>G
ENST00000645377.1:c.341+2T>G ENSP00000494936.1:n.341+2T>G
ENST00000645802.1:n.450T>G
ENST00000647529.1:c.341+2T>G ENSP00000494052.1:n.341+2T>G
ENST00000672675.1:c.341+2T>G ENSP00000499882.1:n.341+2T>G
ENST00000345046.10:c.341+2T>G ENSP00000343458.6:n.341+2T>G
ENST00000416815.5:c.341+2T>G ENSP00000394270.1:n.341+2T>G
ENST00000423827.5:c.341+2T>G ENSP00000389740.1:n.341+2T>G
ENST00000429550.5:c.341+2T>G ENSP00000409888.1:n.341+2T>G
ENST00000430088.1:c.341+2T>G ENSP00000402342.1:n.341+2T>G
ENST00000442093.5:c.341+2T>G ENSP00000400345.1:n.341+2T>G
ENST00000458587.6:c.542+2T>G ENSP00000392330.2:n.542+2T>G
NM_001139441.1:c.341+2T>G NP_001132913.1:n.341+2T>G
NM_001139457.2:c.542+2T>G NP_001132929.1:n.542+2T>G
NM_001256447.1:c.341+2T>G NP_001243376.1:n.341+2T>G
NM_005745.7:c.341+2T>G NP_005736.3:n.341+2T>G
XR_002958758.1:n.972+2T>G
XR_002958759.1:n.798+2T>G
XR_002958760.1:n.563+2T>G
XR_002958761.1:n.497+2T>G
NM_001256447.2:c.341+2T>G MANE Select NP_001243376.1:n.341+2T>G
NM_005745.8:c.341+2T>G NP_005736.3:n.341+2T>G
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