Canonical Allele Identifier: CA294081021

Gene: TSEN54

Linked Data

• dbSNP Id: rs906068277
• gnomAD v3: 17-75524654-G-C
• gnomAD v4: 17-75524654-G-C
• MyVariant Identifiers: chr17:g.73520735G>C (hg19) ; chr17:g.75524654G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524654G>C , CM000679.2:g.75524654G>C	GRCh38
NC_000017.10:g.73520735G>C , CM000679.1:g.73520735G>C	GRCh37
NC_000017.9:g.71032330G>C	NCBI36
NG_013041.1:g.13127G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*242G>C MANE Select	ENSP00000327487.6:n.*242G>C
ENST00000434205.8:c.*242G>C	ENSP00000406559.4:n.*242G>C
ENST00000545228.3:c.*322G>C	ENSP00000438169.3:n.*322G>C
ENST00000577197.2:n.1021G>C
ENST00000579449.2:n.2563G>C
ENST00000580013.6:n.2967G>C
ENST00000679370.1:n.3345G>C
ENST00000679429.1:c.*1281G>C	ENSP00000505403.1:n.*1281G>C
ENST00000679443.1:n.1892G>C
ENST00000679782.1:c.*522G>C	ENSP00000505995.1:n.*522G>C
ENST00000679919.1:n.2094G>C
ENST00000679928.1:c.*2375G>C	ENSP00000506071.1:n.*2375G>C
ENST00000680999.1:c.*242G>C	ENSP00000504984.1:n.*242G>C
ENST00000681282.1:c.*2010G>C	ENSP00000506339.1:n.*2010G>C
ENST00000333213.10:c.*242G>C	ENSP00000327487.6:n.*242G>C
ENST00000545228.2:c.1100G>C
ENST00000577197.1:n.571G>C
NM_207346.2:c.*242G>C	NP_997229.2:n.*242G>C
XM_005257229.2:c.*322G>C	XP_005257286.1:n.*322G>C
XM_006721821.2:c.*322G>C	XP_006721884.1:n.*322G>C
XM_011524616.1:c.*322G>C	XP_011522918.1:n.*322G>C
XM_011524618.1:c.*242G>C	XP_011522920.1:n.*242G>C
XR_243646.2:n.2055G>C
XM_005257229.4:c.*322G>C	XP_005257286.1:n.*322G>C
XR_243646.4:n.2061G>C
NM_207346.3:c.*242G>C MANE Select	NP_997229.2:n.*242G>C