Canonical Allele Identifier: CA476740620

Gene: CASP5

Linked Data

• dbSNP Id: rs1565385446
• gnomAD v2: 11-104877820-G-A
• gnomAD v3: 11-105007093-G-A
• gnomAD v4: 11-105007093-G-A
• MyVariant Identifiers: chr11:g.104877820G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.105007093G>A , CM000673.2:g.105007093G>A	GRCh38
NC_000011.9:g.104877820G>A , CM000673.1:g.104877820G>A	GRCh37
NC_000011.8:g.104383030G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000260315.8:c.423C>T MANE Select	ENSP00000260315.3:p.Thr141=
ENST00000260315.7:c.423C>T	ENSP00000260315.3:p.Thr141=
ENST00000393141.6:c.462C>T	ENSP00000376849.2:p.Thr154=
ENST00000418434.5:c.8-3710C>T	ENSP00000398130.1:n.8-3710C>T
ENST00000444749.6:c.249C>T	ENSP00000388365.2:p.Thr83=
ENST00000456094.1:c.375C>T	ENSP00000415241.1:p.Thr125=
ENST00000456200.5:c.249C>T	ENSP00000408455.1:p.Thr83=
ENST00000526056.5:c.462C>T	ENSP00000436877.1:p.Thr154=
ENST00000531367.5:c.8-3710C>T	ENSP00000434471.1:n.8-3710C>T
NM_001136109.1:c.249C>T	NP_001129581.1:p.Thr83=
NM_001136110.1:c.8-3710C>T	NP_001129582.1:n.8-3710C>T
NM_001136112.1:c.462C>T	NP_001129584.1:p.Thr154=
NM_004347.3:c.423C>T	NP_004338.3:p.Thr141=
NR_024239.1:n.281C>T
NR_036562.1:n.40-4892C>T
XM_011543020.1:c.181+1714C>T	XP_011541322.1:n.181+1714C>T
XM_011543021.1:c.423C>T	XP_011541323.1:p.Thr141=
NM_001136109.2:c.249C>T	NP_001129581.1:p.Thr83=
NM_001136110.2:c.8-3710C>T	NP_001129582.1:n.8-3710C>T
NM_001136112.2:c.462C>T	NP_001129584.1:p.Thr154=
NM_004347.4:c.423C>T	NP_004338.3:p.Thr141=
NR_024239.2:n.281C>T
NR_036562.2:n.40-4892C>T
XM_011543021.2:c.423C>T	XP_011541323.1:p.Thr141=
NM_004347.5:c.423C>T MANE Select	NP_004338.3:p.Thr141=
NM_001136109.3:c.249C>T	NP_001129581.1:p.Thr83=
NM_001136110.3:c.8-3710C>T	NP_001129582.1:n.8-3710C>T
NM_001136112.3:c.462C>T	NP_001129584.1:p.Thr154=
NR_024239.3:n.281C>T
NR_036562.3:n.40-4892C>T