Canonical Allele Identifier: CA2580971191
Gene: BORCS7 HGNC NCBI
BORCS7-ASMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102863821C>G , CM000672.2:g.102863821C>G GRCh38
NC_000010.10:g.104623578C>G , CM000672.1:g.104623578C>G GRCh37
NC_000010.9:g.104613568C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000339834.10:c.*897C>G (BORCS7) MANE Select ENSP00000342331.5:n.*897C>G
ENST00000299353.6:c.*8+889C>G (BORCS7-ASMT) ENSP00000299353.5:n.*8+889C>G
ENST00000339834.9:c.*897C>G (BORCS7) ENSP00000342331.5:n.*897C>G
ENST00000369883.3:c.*100C>G (BORCS7) ENSP00000358899.3:n.*100C>G
NM_001136200.1:c.*897C>G (BORCS7) NP_001129672.1:n.*897C>G
NM_144591.3:c.*100C>G (BORCS7) NP_653192.2:n.*100C>G
NR_037644.1:n.406+889C>G (BORCS7-ASMT)
NM_001136200.2:c.*897C>G (BORCS7) MANE Select NP_001129672.1:n.*897C>G
NM_144591.4:c.*100C>G (BORCS7) NP_653192.2:n.*100C>G
NM_144591.5:c.*100C>G (BORCS7) NP_653192.2:n.*100C>G