Canonical Allele Identifier: CA2275552715

Gene: TSEN54

Linked Data

• dbSNP Id: rs1598480818
• gnomAD v4: 17-75524612-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524612T>G , CM000679.2:g.75524612T>G	GRCh38
NC_000017.10:g.73520693T>G , CM000679.1:g.73520693T>G	GRCh37
NC_000017.9:g.71032288T>G	NCBI36
NG_013041.1:g.13085T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*200T>G MANE Select	ENSP00000327487.6:n.*200T>G
ENST00000434205.8:c.*200T>G	ENSP00000406559.4:n.*200T>G
ENST00000545228.3:c.*280T>G	ENSP00000438169.3:n.*280T>G
ENST00000577197.2:n.979T>G
ENST00000579449.2:n.2521T>G
ENST00000580013.6:n.2925T>G
ENST00000679370.1:n.3303T>G
ENST00000679429.1:c.*1239T>G	ENSP00000505403.1:n.*1239T>G
ENST00000679443.1:n.1850T>G
ENST00000679782.1:c.*480T>G	ENSP00000505995.1:n.*480T>G
ENST00000679919.1:n.2052T>G
ENST00000679928.1:c.*2333T>G	ENSP00000506071.1:n.*2333T>G
ENST00000680999.1:c.*200T>G	ENSP00000504984.1:n.*200T>G
ENST00000681282.1:c.*1968T>G	ENSP00000506339.1:n.*1968T>G
ENST00000333213.10:c.*200T>G	ENSP00000327487.6:n.*200T>G
ENST00000545228.2:c.1058T>G
ENST00000577197.1:n.529T>G
NM_207346.2:c.*200T>G	NP_997229.2:n.*200T>G
XM_005257229.2:c.*280T>G	XP_005257286.1:n.*280T>G
XM_006721821.2:c.*280T>G	XP_006721884.1:n.*280T>G
XM_011524616.1:c.*280T>G	XP_011522918.1:n.*280T>G
XM_011524618.1:c.*200T>G	XP_011522920.1:n.*200T>G
XR_243646.2:n.2013T>G
XM_005257229.4:c.*280T>G	XP_005257286.1:n.*280T>G
XR_243646.4:n.2019T>G
NM_207346.3:c.*200T>G MANE Select	NP_997229.2:n.*200T>G