Canonical Allele Identifier: CA401026855

Gene: TSEN54

Linked Data

• dbSNP Id: rs1205287158
• gnomAD v2: 17-73512675-G-T
• gnomAD v4: 17-75516594-G-T
• MyVariant Identifiers: chr17:g.73512675G>T (hg19) ; chr17:g.75516594G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516594G>T , CM000679.2:g.75516594G>T	GRCh38
NC_000017.10:g.73512675G>T , CM000679.1:g.73512675G>T	GRCh37
NC_000017.9:g.71024270G>T	NCBI36
NG_013041.1:g.5067G>T
NG_033152.1:g.3990C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.34G>T MANE Select	ENSP00000327487.6:p.Val12Phe
ENST00000434205.8:c.-83+208G>T	ENSP00000406559.4:n.-83+208G>T
ENST00000545228.3:c.34G>T	ENSP00000438169.3:p.Val12Phe
ENST00000580013.6:n.43G>T
ENST00000583818.2:c.34G>T	ENSP00000461928.2:p.Val12Phe
ENST00000679370.1:n.444-152G>T
ENST00000679429.1:c.34G>T	ENSP00000505403.1:p.Val12Phe
ENST00000679782.1:c.34G>T	ENSP00000505995.1:p.Val12Phe
ENST00000679928.1:c.34G>T	ENSP00000506071.1:p.Val12Phe
ENST00000680528.1:n.59G>T
ENST00000680999.1:c.34G>T	ENSP00000504984.1:p.Val12Phe
ENST00000681282.1:c.34G>T	ENSP00000506339.1:p.Val12Phe
ENST00000333213.10:c.34G>T	ENSP00000327487.6:p.Val12Phe
ENST00000434205.7:c.-83+208G>T	ENSP00000406559.3:n.-83+208G>T
ENST00000580013.5:n.59G>T
ENST00000583173.5:c.34G>T	ENSP00000463619.1:p.Val12Phe
ENST00000583454.1:n.69G>T
NM_207346.2:c.34G>T	NP_997229.2:p.Val12Phe
XM_005257229.2:c.34G>T	XP_005257286.1:p.Val12Phe
XM_006721821.2:c.-247-152G>T	XP_006721884.1:n.-247-152G>T
XM_011524616.1:c.34G>T	XP_011522918.1:p.Val12Phe
XM_011524617.1:c.34G>T	XP_011522919.1:p.Val12Phe
XM_011524618.1:c.34G>T	XP_011522920.1:p.Val12Phe
XR_243646.2:n.64G>T
XM_005257229.4:c.34G>T	XP_005257286.1:p.Val12Phe
XR_243646.4:n.70G>T
NM_207346.3:c.34G>T MANE Select	NP_997229.2:p.Val12Phe