Canonical Allele Identifier: CA401029555

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75522048-C-A
• MyVariant Identifiers: chr17:g.73518129C>A (hg19) ; chr17:g.75522048C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522048C>A , CM000679.2:g.75522048C>A	GRCh38
NC_000017.10:g.73518129C>A , CM000679.1:g.73518129C>A	GRCh37
NC_000017.9:g.71029724C>A	NCBI36
NG_013041.1:g.10521C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.967C>A MANE Select	ENSP00000327487.6:p.Leu323Ile
ENST00000434205.8:c.664C>A	ENSP00000406559.4:p.Leu222Ile
ENST00000545228.3:c.967C>A	ENSP00000438169.3:p.Leu323Ile
ENST00000579449.2:n.766C>A
ENST00000580013.6:n.1170C>A
ENST00000679370.1:n.1548C>A
ENST00000679429.1:c.*425C>A	ENSP00000505403.1:n.*425C>A
ENST00000679443.1:n.1036C>A
ENST00000679782.1:c.967C>A	ENSP00000505995.1:p.Leu323Ile
ENST00000679919.1:n.1036C>A
ENST00000679928.1:c.*578C>A	ENSP00000506071.1:n.*578C>A
ENST00000680528.1:n.992C>A
ENST00000680999.1:c.967C>A	ENSP00000504984.1:p.Leu323Ile
ENST00000681282.1:c.*213C>A	ENSP00000506339.1:n.*213C>A
ENST00000333213.10:c.967C>A	ENSP00000327487.6:p.Leu323Ile
ENST00000545228.2:c.56C>A
ENST00000578415.1:c.927C>A
ENST00000583173.5:c.500C>A	ENSP00000463619.1:p.Ala167Asp
NM_207346.2:c.967C>A	NP_997229.2:p.Leu323Ile
XM_005257229.2:c.967C>A	XP_005257286.1:p.Leu323Ile
XM_006721821.2:c.664C>A	XP_006721884.1:p.Leu222Ile
XM_011524616.1:c.967C>A	XP_011522918.1:p.Leu323Ile
XM_011524617.1:c.967C>A	XP_011522919.1:p.Leu323Ile
XM_011524618.1:c.967C>A	XP_011522920.1:p.Leu323Ile
XR_243646.2:n.997C>A
XM_005257229.4:c.967C>A	XP_005257286.1:p.Leu323Ile
XR_243646.4:n.1003C>A
NM_207346.3:c.967C>A MANE Select	NP_997229.2:p.Leu323Ile