Canonical Allele Identifier: CA401027228

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 3183602
• ClinVar RCV Id: RCV004476419
• dbSNP Id: rs1349865953
• gnomAD v4: 17-75516904-A-C
• MyVariant Identifiers: chr17:g.73512985A>C (hg19) ; chr17:g.75516904A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516904A>C , CM000679.2:g.75516904A>C	GRCh38
NC_000017.10:g.73512985A>C , CM000679.1:g.73512985A>C	GRCh37
NC_000017.9:g.71024580A>C	NCBI36
NG_013041.1:g.5377A>C
NG_033152.1:g.3680T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.215A>C MANE Select	ENSP00000327487.6:p.Glu72Ala
ENST00000434205.8:c.-82-105A>C	ENSP00000406559.4:n.-82-105A>C
ENST00000545228.3:c.215A>C	ENSP00000438169.3:p.Glu72Ala
ENST00000579449.2:n.21-105A>C
ENST00000580013.6:n.224A>C
ENST00000583818.2:c.215A>C	ENSP00000461928.2:p.Glu72Ala
ENST00000679370.1:n.602A>C
ENST00000679429.1:c.215A>C	ENSP00000505403.1:p.Glu72Ala
ENST00000679443.1:n.90A>C
ENST00000679782.1:c.215A>C	ENSP00000505995.1:p.Glu72Ala
ENST00000679919.1:n.90A>C
ENST00000679928.1:c.215A>C	ENSP00000506071.1:p.Glu72Ala
ENST00000680528.1:n.240A>C
ENST00000680999.1:c.215A>C	ENSP00000504984.1:p.Glu72Ala
ENST00000681282.1:c.215A>C	ENSP00000506339.1:p.Glu72Ala
ENST00000333213.10:c.215A>C	ENSP00000327487.6:p.Glu72Ala
ENST00000434205.7:c.-82-105A>C	ENSP00000406559.3:n.-82-105A>C
ENST00000578415.1:c.93A>C
ENST00000580013.5:n.240A>C
ENST00000583173.5:c.57-105A>C	ENSP00000463619.1:n.57-105A>C
ENST00000583454.1:n.250A>C
ENST00000583818.1:c.110A>C	ENSP00000461928.1:p.Glu37Ala
NM_207346.2:c.215A>C	NP_997229.2:p.Glu72Ala
XM_005257229.2:c.215A>C	XP_005257286.1:p.Glu72Ala
XM_006721821.2:c.-89A>C	XP_006721884.1:n.-89A>C
XM_011524616.1:c.215A>C	XP_011522918.1:p.Glu72Ala
XM_011524617.1:c.215A>C	XP_011522919.1:p.Glu72Ala
XM_011524618.1:c.215A>C	XP_011522920.1:p.Glu72Ala
XR_243646.2:n.245A>C
XM_005257229.4:c.215A>C	XP_005257286.1:p.Glu72Ala
XR_243646.4:n.251A>C
NM_207346.3:c.215A>C MANE Select	NP_997229.2:p.Glu72Ala