Canonical Allele Identifier: CA627406686

Gene: TSEN54

Linked Data

• dbSNP Id: rs1158184632
• gnomAD v2: 17-73520732-G-A
• gnomAD v3: 17-75524651-G-A
• gnomAD v4: 17-75524651-G-A
• MyVariant Identifiers: chr17:g.73520732G>A (hg19) ; chr17:g.75524651G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524651G>A , CM000679.2:g.75524651G>A	GRCh38
NC_000017.10:g.73520732G>A , CM000679.1:g.73520732G>A	GRCh37
NC_000017.9:g.71032327G>A	NCBI36
NG_013041.1:g.13124G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*239G>A MANE Select	ENSP00000327487.6:n.*239G>A
ENST00000434205.8:c.*239G>A	ENSP00000406559.4:n.*239G>A
ENST00000545228.3:c.*319G>A	ENSP00000438169.3:n.*319G>A
ENST00000577197.2:n.1018G>A
ENST00000579449.2:n.2560G>A
ENST00000580013.6:n.2964G>A
ENST00000679370.1:n.3342G>A
ENST00000679429.1:c.*1278G>A	ENSP00000505403.1:n.*1278G>A
ENST00000679443.1:n.1889G>A
ENST00000679782.1:c.*519G>A	ENSP00000505995.1:n.*519G>A
ENST00000679919.1:n.2091G>A
ENST00000679928.1:c.*2372G>A	ENSP00000506071.1:n.*2372G>A
ENST00000680999.1:c.*239G>A	ENSP00000504984.1:n.*239G>A
ENST00000681282.1:c.*2007G>A	ENSP00000506339.1:n.*2007G>A
ENST00000333213.10:c.*239G>A	ENSP00000327487.6:n.*239G>A
ENST00000545228.2:c.1097G>A
ENST00000577197.1:n.568G>A
NM_207346.2:c.*239G>A	NP_997229.2:n.*239G>A
XM_005257229.2:c.*319G>A	XP_005257286.1:n.*319G>A
XM_006721821.2:c.*319G>A	XP_006721884.1:n.*319G>A
XM_011524616.1:c.*319G>A	XP_011522918.1:n.*319G>A
XM_011524618.1:c.*239G>A	XP_011522920.1:n.*239G>A
XR_243646.2:n.2052G>A
XM_005257229.4:c.*319G>A	XP_005257286.1:n.*319G>A
XR_243646.4:n.2058G>A
NM_207346.3:c.*239G>A MANE Select	NP_997229.2:n.*239G>A