Canonical Allele Identifier: CA2275551167

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053428419
• gnomAD v4: 17-75521683-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521683G>C , CM000679.2:g.75521683G>C	GRCh38
NC_000017.10:g.73517764G>C , CM000679.1:g.73517764G>C	GRCh37
NC_000017.9:g.71029359G>C	NCBI36
NG_013041.1:g.10156G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.624-22G>C MANE Select	ENSP00000327487.6:n.624-22G>C
ENST00000434205.8:c.321-22G>C	ENSP00000406559.4:n.321-22G>C
ENST00000545228.3:c.624-22G>C	ENSP00000438169.3:n.624-22G>C
ENST00000579449.2:n.423-22G>C
ENST00000580013.6:n.805G>C
ENST00000583818.2:c.678-22G>C	ENSP00000461928.2:n.678-22G>C
ENST00000679370.1:n.1183G>C
ENST00000679429.1:c.*82-22G>C	ENSP00000505403.1:n.*82-22G>C
ENST00000679443.1:n.671G>C
ENST00000679782.1:c.624-22G>C	ENSP00000505995.1:n.624-22G>C
ENST00000679919.1:n.671G>C
ENST00000679928.1:c.*235-22G>C	ENSP00000506071.1:n.*235-22G>C
ENST00000680528.1:n.649-22G>C
ENST00000680999.1:c.624-22G>C	ENSP00000504984.1:n.624-22G>C
ENST00000681282.1:c.631G>C	ENSP00000506339.1:p.Ala211Pro
ENST00000333213.10:c.624-22G>C	ENSP00000327487.6:n.624-22G>C
ENST00000578415.1:c.584-22G>C
ENST00000583173.5:c.458+173G>C	ENSP00000463619.1:n.458+173G>C
ENST00000583818.1:c.573-22G>C	ENSP00000461928.1:n.573-22G>C
NM_207346.2:c.624-22G>C	NP_997229.2:n.624-22G>C
XM_005257229.2:c.624-22G>C	XP_005257286.1:n.624-22G>C
XM_006721821.2:c.321-22G>C	XP_006721884.1:n.321-22G>C
XM_011524616.1:c.624-22G>C	XP_011522918.1:n.624-22G>C
XM_011524617.1:c.624-22G>C	XP_011522919.1:n.624-22G>C
XM_011524618.1:c.624-22G>C	XP_011522920.1:n.624-22G>C
XR_243646.2:n.654-22G>C
XM_005257229.4:c.624-22G>C	XP_005257286.1:n.624-22G>C
XR_243646.4:n.660-22G>C
NM_207346.3:c.624-22G>C MANE Select	NP_997229.2:n.624-22G>C