Canonical Allele Identifier: CA986325478

Gene: TSEN54

Linked Data

• dbSNP Id: rs1598480846
• gnomAD v3: 17-75524628-A-C
• gnomAD v4: 17-75524628-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524628A>C , CM000679.2:g.75524628A>C	GRCh38
NC_000017.10:g.73520709A>C , CM000679.1:g.73520709A>C	GRCh37
NC_000017.9:g.71032304A>C	NCBI36
NG_013041.1:g.13101A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*216A>C MANE Select	ENSP00000327487.6:n.*216A>C
ENST00000434205.8:c.*216A>C	ENSP00000406559.4:n.*216A>C
ENST00000545228.3:c.*296A>C	ENSP00000438169.3:n.*296A>C
ENST00000577197.2:n.995A>C
ENST00000579449.2:n.2537A>C
ENST00000580013.6:n.2941A>C
ENST00000679370.1:n.3319A>C
ENST00000679429.1:c.*1255A>C	ENSP00000505403.1:n.*1255A>C
ENST00000679443.1:n.1866A>C
ENST00000679782.1:c.*496A>C	ENSP00000505995.1:n.*496A>C
ENST00000679919.1:n.2068A>C
ENST00000679928.1:c.*2349A>C	ENSP00000506071.1:n.*2349A>C
ENST00000680999.1:c.*216A>C	ENSP00000504984.1:n.*216A>C
ENST00000681282.1:c.*1984A>C	ENSP00000506339.1:n.*1984A>C
ENST00000333213.10:c.*216A>C	ENSP00000327487.6:n.*216A>C
ENST00000545228.2:c.1074A>C
ENST00000577197.1:n.545A>C
NM_207346.2:c.*216A>C	NP_997229.2:n.*216A>C
XM_005257229.2:c.*296A>C	XP_005257286.1:n.*296A>C
XM_006721821.2:c.*296A>C	XP_006721884.1:n.*296A>C
XM_011524616.1:c.*296A>C	XP_011522918.1:n.*296A>C
XM_011524618.1:c.*216A>C	XP_011522920.1:n.*216A>C
XR_243646.2:n.2029A>C
XM_005257229.4:c.*296A>C	XP_005257286.1:n.*296A>C
XR_243646.4:n.2035A>C
NM_207346.3:c.*216A>C MANE Select	NP_997229.2:n.*216A>C