Canonical Allele Identifier: CA2580971192

Gene: BORCS7 BORCS7-ASMT

Genomic Alleles

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

Transcript Alleles

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