Canonical Allele Identifier: CA986325488

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053484029
• gnomAD v3: 17-75524636-G-A
• gnomAD v4: 17-75524636-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524636G>A , CM000679.2:g.75524636G>A	GRCh38
NC_000017.10:g.73520717G>A , CM000679.1:g.73520717G>A	GRCh37
NC_000017.9:g.71032312G>A	NCBI36
NG_013041.1:g.13109G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*224G>A MANE Select	ENSP00000327487.6:n.*224G>A
ENST00000434205.8:c.*224G>A	ENSP00000406559.4:n.*224G>A
ENST00000545228.3:c.*304G>A	ENSP00000438169.3:n.*304G>A
ENST00000577197.2:n.1003G>A
ENST00000579449.2:n.2545G>A
ENST00000580013.6:n.2949G>A
ENST00000679370.1:n.3327G>A
ENST00000679429.1:c.*1263G>A	ENSP00000505403.1:n.*1263G>A
ENST00000679443.1:n.1874G>A
ENST00000679782.1:c.*504G>A	ENSP00000505995.1:n.*504G>A
ENST00000679919.1:n.2076G>A
ENST00000679928.1:c.*2357G>A	ENSP00000506071.1:n.*2357G>A
ENST00000680999.1:c.*224G>A	ENSP00000504984.1:n.*224G>A
ENST00000681282.1:c.*1992G>A	ENSP00000506339.1:n.*1992G>A
ENST00000333213.10:c.*224G>A	ENSP00000327487.6:n.*224G>A
ENST00000545228.2:c.1082G>A
ENST00000577197.1:n.553G>A
NM_207346.2:c.*224G>A	NP_997229.2:n.*224G>A
XM_005257229.2:c.*304G>A	XP_005257286.1:n.*304G>A
XM_006721821.2:c.*304G>A	XP_006721884.1:n.*304G>A
XM_011524616.1:c.*304G>A	XP_011522918.1:n.*304G>A
XM_011524618.1:c.*224G>A	XP_011522920.1:n.*224G>A
XR_243646.2:n.2037G>A
XM_005257229.4:c.*304G>A	XP_005257286.1:n.*304G>A
XR_243646.4:n.2043G>A
NM_207346.3:c.*224G>A MANE Select	NP_997229.2:n.*224G>A