Canonical Allele Identifier: CA383959495

Gene: BORCS5

Linked Data

• ClinVar Variation Id: 242898
• ClinVar RCV Id: RCV000491216
• dbSNP Id: rs1555155556
• MyVariant Identifiers: chr12:g.12588561G>T (hg19) ; chr12:g.12435627G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12435627G>T , CM000674.2:g.12435627G>T	GRCh38
NC_000012.11:g.12588561G>T , CM000674.1:g.12588561G>T	GRCh37
NC_000012.10:g.12479828G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314565.9:c.203-1G>T MANE Select	ENSP00000321546.4:n.203-1G>T
ENST00000298571.6:c.59-1G>T	ENSP00000298571.6:n.59-1G>T
ENST00000314565.8:c.203-1G>T	ENSP00000321546.4:n.203-1G>T
ENST00000542728.5:c.146-1G>T	ENSP00000443023.1:n.146-1G>T
ENST00000543990.1:n.297-1G>T
NM_001300742.1:c.146-1G>T	NP_001287671.1:n.146-1G>T
NM_058169.4:c.203-1G>T	NP_477517.1:n.203-1G>T
XM_011520550.1:c.146-1G>T	XP_011518852.1:n.146-1G>T
XM_011520551.1:c.113-1G>T	XP_011518853.1:n.113-1G>T
XM_011520552.1:c.59-1G>T	XP_011518854.1:n.59-1G>T
XM_011520553.1:c.203-1G>T	XP_011518855.1:n.203-1G>T
NM_001300742.2:c.146-1G>T	NP_001287671.1:n.146-1G>T
NM_001330356.1:c.59-1G>T	NP_001317285.1:n.59-1G>T
NM_058169.5:c.203-1G>T	NP_477517.1:n.203-1G>T
XM_011520551.2:c.113-1G>T	XP_011518853.1:n.113-1G>T
XM_011520553.2:c.203-1G>T	XP_011518855.1:n.203-1G>T
XM_017018778.1:c.203-1G>T	XP_016874267.1:n.203-1G>T
NM_058169.6:c.203-1G>T MANE Select	NP_477517.1:n.203-1G>T
NM_001300742.3:c.146-1G>T	NP_001287671.1:n.146-1G>T
NM_001330356.2:c.59-1G>T	NP_001317285.1:n.59-1G>T