Canonical Allele Identifier: CA401031081

Gene: TSEN54

Linked Data

• dbSNP Id: rs1477015999
• gnomAD v3: 17-75524279-C-A
• gnomAD v4: 17-75524279-C-A
• MyVariant Identifiers: chr17:g.73520360C>A (hg19) ; chr17:g.75524279C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524279C>A , CM000679.2:g.75524279C>A	GRCh38
NC_000017.10:g.73520360C>A , CM000679.1:g.73520360C>A	GRCh37
NC_000017.9:g.71031955C>A	NCBI36
NG_013041.1:g.12752C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1448C>A MANE Select	ENSP00000327487.6:p.Pro483Gln
ENST00000434205.8:c.1145C>A	ENSP00000406559.4:p.Pro382Gln
ENST00000545228.3:c.1636C>A	ENSP00000438169.3:p.Gln546Lys
ENST00000577197.2:n.646C>A
ENST00000579449.2:n.2188C>A
ENST00000580013.6:n.2592C>A
ENST00000679370.1:n.2970C>A
ENST00000679429.1:c.*906C>A	ENSP00000505403.1:n.*906C>A
ENST00000679443.1:n.1517C>A
ENST00000679782.1:c.*147C>A	ENSP00000505995.1:n.*147C>A
ENST00000679919.1:n.1719C>A
ENST00000679928.1:c.*2000C>A	ENSP00000506071.1:n.*2000C>A
ENST00000680528.1:n.2414C>A
ENST00000680999.1:c.1661C>A	ENSP00000504984.1:p.Pro554Gln
ENST00000681282.1:c.*1635C>A	ENSP00000506339.1:n.*1635C>A
ENST00000333213.10:c.1448C>A	ENSP00000327487.6:p.Pro483Gln
ENST00000545228.2:c.725C>A
ENST00000577197.1:n.196C>A
ENST00000579449.1:n.645C>A
NM_207346.2:c.1448C>A	NP_997229.2:p.Pro483Gln
XM_005257229.2:c.1636C>A	XP_005257286.1:p.Gln546Lys
XM_006721821.2:c.1333C>A	XP_006721884.1:p.Gln445Lys
XM_011524616.1:c.1519C>A	XP_011522918.1:p.Gln507Lys
XM_011524617.1:c.*30C>A	XP_011522919.1:n.*30C>A
XM_011524618.1:c.1331C>A	XP_011522920.1:p.Pro444Gln
XR_243646.2:n.1680C>A
XM_005257229.4:c.1636C>A	XP_005257286.1:p.Gln546Lys
XR_001753015.1:n.87+32G>T
XR_001753016.1:n.88+32G>T
XR_243646.4:n.1686C>A
NM_207346.3:c.1448C>A MANE Select	NP_997229.2:p.Pro483Gln