Canonical Allele Identifier: CA173717

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 137759
• ClinVar RCV Id: RCV000147774 ; RCV000325339 ; RCV001518249 ; RCV001839921 ; RCV001839923 ; RCV001839922
• dbSNP Id: rs62088470
• ExAC: 17:73520359 C / G
• gnomAD v2: 17-73520359-C-G
• gnomAD v3: 17-75524278-C-G
• gnomAD v4: 17-75524278-C-G
• MyVariant Identifiers: chr17:g.73520359C>G (hg19) ; chr17:g.75524278C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524278C>G , CM000679.2:g.75524278C>G	GRCh38
NC_000017.10:g.73520359C>G , CM000679.1:g.73520359C>G	GRCh37
NC_000017.9:g.71031954C>G	NCBI36
NG_013041.1:g.12751C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1447C>G MANE Select	ENSP00000327487.6:p.Pro483Ala
ENST00000434205.8:c.1144C>G	ENSP00000406559.4:p.Pro382Ala
ENST00000545228.3:c.1635C>G	ENSP00000438169.3:p.Ser545=
ENST00000577197.2:n.645C>G
ENST00000579449.2:n.2187C>G
ENST00000580013.6:n.2591C>G
ENST00000679370.1:n.2969C>G
ENST00000679429.1:c.*905C>G	ENSP00000505403.1:n.*905C>G
ENST00000679443.1:n.1516C>G
ENST00000679782.1:c.*146C>G	ENSP00000505995.1:n.*146C>G
ENST00000679919.1:n.1718C>G
ENST00000679928.1:c.*1999C>G	ENSP00000506071.1:n.*1999C>G
ENST00000680528.1:n.2413C>G
ENST00000680999.1:c.1660C>G	ENSP00000504984.1:p.Pro554Ala
ENST00000681282.1:c.*1634C>G	ENSP00000506339.1:n.*1634C>G
ENST00000333213.10:c.1447C>G	ENSP00000327487.6:p.Pro483Ala
ENST00000545228.2:c.724C>G
ENST00000577197.1:n.195C>G
ENST00000579449.1:n.644C>G
NM_207346.2:c.1447C>G	NP_997229.2:p.Pro483Ala
XM_005257229.2:c.1635C>G	XP_005257286.1:p.Ser545=
XM_006721821.2:c.1332C>G	XP_006721884.1:p.Ser444=
XM_011524616.1:c.1518C>G	XP_011522918.1:p.Ser506=
XM_011524617.1:c.*29C>G	XP_011522919.1:n.*29C>G
XM_011524618.1:c.1330C>G	XP_011522920.1:p.Pro444Ala
XR_243646.2:n.1679C>G
XM_005257229.4:c.1635C>G	XP_005257286.1:p.Ser545=
XR_001753015.1:n.87+33G>C
XR_001753016.1:n.88+33G>C
XR_243646.4:n.1685C>G
NM_207346.3:c.1447C>G MANE Select	NP_997229.2:p.Pro483Ala