Canonical Allele Identifier: CA2639836722

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524675-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524675T>C , CM000679.2:g.75524675T>C	GRCh38
NC_000017.10:g.73520756T>C , CM000679.1:g.73520756T>C	GRCh37
NC_000017.9:g.71032351T>C	NCBI36
NG_013041.1:g.13148T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*263T>C MANE Select	ENSP00000327487.6:n.*263T>C
ENST00000434205.8:c.*263T>C	ENSP00000406559.4:n.*263T>C
ENST00000545228.3:c.*343T>C	ENSP00000438169.3:n.*343T>C
ENST00000577197.2:n.1042T>C
ENST00000579449.2:n.2584T>C
ENST00000580013.6:n.2988T>C
ENST00000679370.1:n.3366T>C
ENST00000679429.1:c.*1302T>C	ENSP00000505403.1:n.*1302T>C
ENST00000679443.1:n.1913T>C
ENST00000679782.1:c.*543T>C	ENSP00000505995.1:n.*543T>C
ENST00000679919.1:n.2115T>C
ENST00000679928.1:c.*2396T>C	ENSP00000506071.1:n.*2396T>C
ENST00000680999.1:c.*263T>C	ENSP00000504984.1:n.*263T>C
ENST00000681282.1:c.*2031T>C	ENSP00000506339.1:n.*2031T>C
ENST00000333213.10:c.*263T>C	ENSP00000327487.6:n.*263T>C
ENST00000545228.2:c.1121T>C
ENST00000577197.1:n.592T>C
NM_207346.2:c.*263T>C	NP_997229.2:n.*263T>C
XM_005257229.2:c.*343T>C	XP_005257286.1:n.*343T>C
XM_006721821.2:c.*343T>C	XP_006721884.1:n.*343T>C
XM_011524616.1:c.*343T>C	XP_011522918.1:n.*343T>C
XM_011524618.1:c.*263T>C	XP_011522920.1:n.*263T>C
XR_243646.2:n.2076T>C
XM_005257229.4:c.*343T>C	XP_005257286.1:n.*343T>C
XR_243646.4:n.2082T>C
NM_207346.3:c.*263T>C MANE Select	NP_997229.2:n.*263T>C