Canonical Allele Identifier: CA592895308

Gene: BMS1

Linked Data

• dbSNP Id: rs1359608283
• gnomAD v2: 10-43293628-C-T
• gnomAD v3: 10-42798180-C-T
• gnomAD v4: 10-42798180-C-T
• MyVariant Identifiers: chr10:g.43293628C>T (hg19) ; chr10:g.42798180C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.42798180C>T , CM000672.2:g.42798180C>T	GRCh38
NC_000010.10:g.43293628C>T , CM000672.1:g.43293628C>T	GRCh37
NC_000010.9:g.42613634C>T	NCBI36
NG_046921.1:g.20675C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374518.6:c.2090-288C>T MANE Select	ENSP00000363642.4:n.2090-288C>T
ENST00000374518.5:c.2090-288C>T	ENSP00000363642.4:n.2090-288C>T
NM_014753.3:c.2090-288C>T	NP_055568.3:n.2090-288C>T
XM_005271846.2:c.2090-288C>T	XP_005271903.1:n.2090-288C>T
XM_005271847.2:c.1901-288C>T	XP_005271904.1:n.1901-288C>T
XM_005271848.2:c.2090-288C>T	XP_005271905.1:n.2090-288C>T
XM_005271849.2:c.2090-288C>T	XP_005271906.1:n.2090-288C>T
XM_006718081.2:c.2090-288C>T	XP_006718144.1:n.2090-288C>T
XM_011540402.1:c.2090-288C>T	XP_011538704.1:n.2090-288C>T
XM_011540403.1:c.857-288C>T	XP_011538705.1:n.857-288C>T
XR_246522.1:n.2179-288C>T
XR_428728.2:n.2179-288C>T
XM_005271846.3:c.2090-288C>T	XP_005271903.1:n.2090-288C>T
XM_005271848.3:c.2090-288C>T	XP_005271905.1:n.2090-288C>T
XM_011540402.2:c.2090-288C>T	XP_011538704.1:n.2090-288C>T
XM_011540403.2:c.857-288C>T	XP_011538705.1:n.857-288C>T
XR_001747266.1:n.2179-288C>T
XR_002957049.1:n.2179-288C>T
NM_014753.4:c.2090-288C>T MANE Select	NP_055568.3:n.2090-288C>T