Canonical Allele Identifier: CA2598230715

Gene: TSEN54

Linked Data

• dbSNP Id: rs2147020534
• gnomAD v3: 17-75524535-C-G
• gnomAD v4: 17-75524535-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524535C>G , CM000679.2:g.75524535C>G	GRCh38
NC_000017.10:g.73520616C>G , CM000679.1:g.73520616C>G	GRCh37
NC_000017.9:g.71032211C>G	NCBI36
NG_013041.1:g.13008C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*123C>G MANE Select	ENSP00000327487.6:n.*123C>G
ENST00000434205.8:c.*123C>G	ENSP00000406559.4:n.*123C>G
ENST00000545228.3:c.*203C>G	ENSP00000438169.3:n.*203C>G
ENST00000577197.2:n.902C>G
ENST00000579449.2:n.2444C>G
ENST00000580013.6:n.2848C>G
ENST00000679370.1:n.3226C>G
ENST00000679429.1:c.*1162C>G	ENSP00000505403.1:n.*1162C>G
ENST00000679443.1:n.1773C>G
ENST00000679782.1:c.*403C>G	ENSP00000505995.1:n.*403C>G
ENST00000679919.1:n.1975C>G
ENST00000679928.1:c.*2256C>G	ENSP00000506071.1:n.*2256C>G
ENST00000680999.1:c.*123C>G	ENSP00000504984.1:n.*123C>G
ENST00000681282.1:c.*1891C>G	ENSP00000506339.1:n.*1891C>G
ENST00000333213.10:c.*123C>G	ENSP00000327487.6:n.*123C>G
ENST00000545228.2:c.981C>G
ENST00000577197.1:n.452C>G
NM_207346.2:c.*123C>G	NP_997229.2:n.*123C>G
XM_005257229.2:c.*203C>G	XP_005257286.1:n.*203C>G
XM_006721821.2:c.*203C>G	XP_006721884.1:n.*203C>G
XM_011524616.1:c.*203C>G	XP_011522918.1:n.*203C>G
XM_011524618.1:c.*123C>G	XP_011522920.1:n.*123C>G
XR_243646.2:n.1936C>G
XM_005257229.4:c.*203C>G	XP_005257286.1:n.*203C>G
XR_243646.4:n.1942C>G
NM_207346.3:c.*123C>G MANE Select	NP_997229.2:n.*123C>G