Canonical Allele Identifier: CA2598230731

Gene: TSEN54

Linked Data

• dbSNP Id: rs2147021283
• gnomAD v3: 17-75524697-T-C
• gnomAD v4: 17-75524697-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524697T>C , CM000679.2:g.75524697T>C	GRCh38
NC_000017.10:g.73520778T>C , CM000679.1:g.73520778T>C	GRCh37
NC_000017.9:g.71032373T>C	NCBI36
NG_013041.1:g.13170T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*285T>C MANE Select	ENSP00000327487.6:n.*285T>C
ENST00000434205.8:c.*285T>C	ENSP00000406559.4:n.*285T>C
ENST00000577197.2:n.1064T>C
ENST00000579449.2:n.2606T>C
ENST00000580013.6:n.3010T>C
ENST00000679370.1:n.3388T>C
ENST00000679429.1:c.*1324T>C	ENSP00000505403.1:n.*1324T>C
ENST00000679443.1:n.1935T>C
ENST00000679782.1:c.*565T>C	ENSP00000505995.1:n.*565T>C
ENST00000679919.1:n.2137T>C
ENST00000679928.1:c.*2418T>C	ENSP00000506071.1:n.*2418T>C
ENST00000680999.1:c.*285T>C	ENSP00000504984.1:n.*285T>C
ENST00000681282.1:c.*2053T>C	ENSP00000506339.1:n.*2053T>C
ENST00000333213.10:c.*285T>C	ENSP00000327487.6:n.*285T>C
ENST00000577197.1:n.614T>C
NM_207346.2:c.*285T>C	NP_997229.2:n.*285T>C
XM_005257229.2:c.*365T>C	XP_005257286.1:n.*365T>C
XM_006721821.2:c.*365T>C	XP_006721884.1:n.*365T>C
XM_011524616.1:c.*365T>C	XP_011522918.1:n.*365T>C
XM_011524618.1:c.*285T>C	XP_011522920.1:n.*285T>C
XR_243646.2:n.2098T>C
XM_005257229.4:c.*365T>C	XP_005257286.1:n.*365T>C
XR_243646.4:n.2104T>C
NM_207346.3:c.*285T>C MANE Select	NP_997229.2:n.*285T>C