Canonical Allele Identifier: CA2639836823

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524700-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524700T>C , CM000679.2:g.75524700T>C	GRCh38
NC_000017.10:g.73520781T>C , CM000679.1:g.73520781T>C	GRCh37
NC_000017.9:g.71032376T>C	NCBI36
NG_013041.1:g.13173T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*288T>C MANE Select	ENSP00000327487.6:n.*288T>C
ENST00000434205.8:c.*288T>C	ENSP00000406559.4:n.*288T>C
ENST00000577197.2:n.1067T>C
ENST00000579449.2:n.2609T>C
ENST00000580013.6:n.3013T>C
ENST00000679370.1:n.3391T>C
ENST00000679429.1:c.*1327T>C	ENSP00000505403.1:n.*1327T>C
ENST00000679928.1:c.*2421T>C	ENSP00000506071.1:n.*2421T>C
ENST00000681282.1:c.*2056T>C	ENSP00000506339.1:n.*2056T>C
ENST00000333213.10:c.*288T>C	ENSP00000327487.6:n.*288T>C
ENST00000577197.1:n.617T>C
NM_207346.2:c.*288T>C	NP_997229.2:n.*288T>C
XM_005257229.2:c.*368T>C	XP_005257286.1:n.*368T>C
XM_006721821.2:c.*368T>C	XP_006721884.1:n.*368T>C
XM_011524616.1:c.*368T>C	XP_011522918.1:n.*368T>C
XM_011524618.1:c.*288T>C	XP_011522920.1:n.*288T>C
XR_243646.2:n.2101T>C
XM_005257229.4:c.*368T>C	XP_005257286.1:n.*368T>C
XR_243646.4:n.2107T>C
NM_207346.3:c.*288T>C MANE Select	NP_997229.2:n.*288T>C