Canonical Allele Identifier: CA294081047

Gene: TSEN54

Linked Data

• dbSNP Id: rs553663522
• gnomAD v2: 17-73520777-G-A
• gnomAD v3: 17-75524696-G-A
• gnomAD v4: 17-75524696-G-A
• MyVariant Identifiers: chr17:g.73520777G>A (hg19) ; chr17:g.75524696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524696G>A , CM000679.2:g.75524696G>A	GRCh38
NC_000017.10:g.73520777G>A , CM000679.1:g.73520777G>A	GRCh37
NC_000017.9:g.71032372G>A	NCBI36
NG_013041.1:g.13169G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*284G>A MANE Select	ENSP00000327487.6:n.*284G>A
ENST00000434205.8:c.*284G>A	ENSP00000406559.4:n.*284G>A
ENST00000577197.2:n.1063G>A
ENST00000579449.2:n.2605G>A
ENST00000580013.6:n.3009G>A
ENST00000679370.1:n.3387G>A
ENST00000679429.1:c.*1323G>A	ENSP00000505403.1:n.*1323G>A
ENST00000679443.1:n.1934G>A
ENST00000679782.1:c.*564G>A	ENSP00000505995.1:n.*564G>A
ENST00000679919.1:n.2136G>A
ENST00000679928.1:c.*2417G>A	ENSP00000506071.1:n.*2417G>A
ENST00000680999.1:c.*284G>A	ENSP00000504984.1:n.*284G>A
ENST00000681282.1:c.*2052G>A	ENSP00000506339.1:n.*2052G>A
ENST00000333213.10:c.*284G>A	ENSP00000327487.6:n.*284G>A
ENST00000577197.1:n.613G>A
NM_207346.2:c.*284G>A	NP_997229.2:n.*284G>A
XM_005257229.2:c.*364G>A	XP_005257286.1:n.*364G>A
XM_006721821.2:c.*364G>A	XP_006721884.1:n.*364G>A
XM_011524616.1:c.*364G>A	XP_011522918.1:n.*364G>A
XM_011524618.1:c.*284G>A	XP_011522920.1:n.*284G>A
XR_243646.2:n.2097G>A
XM_005257229.4:c.*364G>A	XP_005257286.1:n.*364G>A
XR_243646.4:n.2103G>A
NM_207346.3:c.*284G>A MANE Select	NP_997229.2:n.*284G>A