Canonical Allele Identifier: CA627406680

Gene: TSEN54

Linked Data

• dbSNP Id: rs1384023981
• gnomAD v2: 17-73520686-A-G
• gnomAD v4: 17-75524605-A-G
• MyVariant Identifiers: chr17:g.73520686A>G (hg19) ; chr17:g.75524605A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524605A>G , CM000679.2:g.75524605A>G	GRCh38
NC_000017.10:g.73520686A>G , CM000679.1:g.73520686A>G	GRCh37
NC_000017.9:g.71032281A>G	NCBI36
NG_013041.1:g.13078A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*193A>G MANE Select	ENSP00000327487.6:n.*193A>G
ENST00000434205.8:c.*193A>G	ENSP00000406559.4:n.*193A>G
ENST00000545228.3:c.*273A>G	ENSP00000438169.3:n.*273A>G
ENST00000577197.2:n.972A>G
ENST00000579449.2:n.2514A>G
ENST00000580013.6:n.2918A>G
ENST00000679370.1:n.3296A>G
ENST00000679429.1:c.*1232A>G	ENSP00000505403.1:n.*1232A>G
ENST00000679443.1:n.1843A>G
ENST00000679782.1:c.*473A>G	ENSP00000505995.1:n.*473A>G
ENST00000679919.1:n.2045A>G
ENST00000679928.1:c.*2326A>G	ENSP00000506071.1:n.*2326A>G
ENST00000680999.1:c.*193A>G	ENSP00000504984.1:n.*193A>G
ENST00000681282.1:c.*1961A>G	ENSP00000506339.1:n.*1961A>G
ENST00000333213.10:c.*193A>G	ENSP00000327487.6:n.*193A>G
ENST00000545228.2:c.1051A>G
ENST00000577197.1:n.522A>G
NM_207346.2:c.*193A>G	NP_997229.2:n.*193A>G
XM_005257229.2:c.*273A>G	XP_005257286.1:n.*273A>G
XM_006721821.2:c.*273A>G	XP_006721884.1:n.*273A>G
XM_011524616.1:c.*273A>G	XP_011522918.1:n.*273A>G
XM_011524618.1:c.*193A>G	XP_011522920.1:n.*193A>G
XR_243646.2:n.2006A>G
XM_005257229.4:c.*273A>G	XP_005257286.1:n.*273A>G
XR_243646.4:n.2012A>G
NM_207346.3:c.*193A>G MANE Select	NP_997229.2:n.*193A>G