Canonical Allele Identifier: CA294081013

Gene: TSEN54

Linked Data

• dbSNP Id: rs1027035831
• gnomAD v4: 17-75524637-A-G
• MyVariant Identifiers: chr17:g.73520718A>G (hg19) ; chr17:g.75524637A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524637A>G , CM000679.2:g.75524637A>G	GRCh38
NC_000017.10:g.73520718A>G , CM000679.1:g.73520718A>G	GRCh37
NC_000017.9:g.71032313A>G	NCBI36
NG_013041.1:g.13110A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*225A>G MANE Select	ENSP00000327487.6:n.*225A>G
ENST00000434205.8:c.*225A>G	ENSP00000406559.4:n.*225A>G
ENST00000545228.3:c.*305A>G	ENSP00000438169.3:n.*305A>G
ENST00000577197.2:n.1004A>G
ENST00000579449.2:n.2546A>G
ENST00000580013.6:n.2950A>G
ENST00000679370.1:n.3328A>G
ENST00000679429.1:c.*1264A>G	ENSP00000505403.1:n.*1264A>G
ENST00000679443.1:n.1875A>G
ENST00000679782.1:c.*505A>G	ENSP00000505995.1:n.*505A>G
ENST00000679919.1:n.2077A>G
ENST00000679928.1:c.*2358A>G	ENSP00000506071.1:n.*2358A>G
ENST00000680999.1:c.*225A>G	ENSP00000504984.1:n.*225A>G
ENST00000681282.1:c.*1993A>G	ENSP00000506339.1:n.*1993A>G
ENST00000333213.10:c.*225A>G	ENSP00000327487.6:n.*225A>G
ENST00000545228.2:c.1083A>G
ENST00000577197.1:n.554A>G
NM_207346.2:c.*225A>G	NP_997229.2:n.*225A>G
XM_005257229.2:c.*305A>G	XP_005257286.1:n.*305A>G
XM_006721821.2:c.*305A>G	XP_006721884.1:n.*305A>G
XM_011524616.1:c.*305A>G	XP_011522918.1:n.*305A>G
XM_011524618.1:c.*225A>G	XP_011522920.1:n.*225A>G
XR_243646.2:n.2038A>G
XM_005257229.4:c.*305A>G	XP_005257286.1:n.*305A>G
XR_243646.4:n.2044A>G
NM_207346.3:c.*225A>G MANE Select	NP_997229.2:n.*225A>G