Canonical Allele Identifier: CA2275552744

Gene: TSEN54

Linked Data

• dbSNP Id: rs1568006271
• gnomAD v4: 17-75524662-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524662G>A , CM000679.2:g.75524662G>A	GRCh38
NC_000017.10:g.73520743G>A , CM000679.1:g.73520743G>A	GRCh37
NC_000017.9:g.71032338G>A	NCBI36
NG_013041.1:g.13135G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*250G>A MANE Select	ENSP00000327487.6:n.*250G>A
ENST00000434205.8:c.*250G>A	ENSP00000406559.4:n.*250G>A
ENST00000545228.3:c.*330G>A	ENSP00000438169.3:n.*330G>A
ENST00000577197.2:n.1029G>A
ENST00000579449.2:n.2571G>A
ENST00000580013.6:n.2975G>A
ENST00000679370.1:n.3353G>A
ENST00000679429.1:c.*1289G>A	ENSP00000505403.1:n.*1289G>A
ENST00000679443.1:n.1900G>A
ENST00000679782.1:c.*530G>A	ENSP00000505995.1:n.*530G>A
ENST00000679919.1:n.2102G>A
ENST00000679928.1:c.*2383G>A	ENSP00000506071.1:n.*2383G>A
ENST00000680999.1:c.*250G>A	ENSP00000504984.1:n.*250G>A
ENST00000681282.1:c.*2018G>A	ENSP00000506339.1:n.*2018G>A
ENST00000333213.10:c.*250G>A	ENSP00000327487.6:n.*250G>A
ENST00000545228.2:c.1108G>A
ENST00000577197.1:n.579G>A
NM_207346.2:c.*250G>A	NP_997229.2:n.*250G>A
XM_005257229.2:c.*330G>A	XP_005257286.1:n.*330G>A
XM_006721821.2:c.*330G>A	XP_006721884.1:n.*330G>A
XM_011524616.1:c.*330G>A	XP_011522918.1:n.*330G>A
XM_011524618.1:c.*250G>A	XP_011522920.1:n.*250G>A
XR_243646.2:n.2063G>A
XM_005257229.4:c.*330G>A	XP_005257286.1:n.*330G>A
XR_243646.4:n.2069G>A
NM_207346.3:c.*250G>A MANE Select	NP_997229.2:n.*250G>A