Canonical Allele Identifier: CA8763982

Gene: TSEN54

Linked Data

• dbSNP Id: rs777749516
• ExAC: 17:73512927 G / A
• gnomAD v2: 17-73512927-G-A
• gnomAD v4: 17-75516846-G-A
• MyVariant Identifiers: chr17:g.73512927G>A (hg19) ; chr17:g.75516846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516846G>A , CM000679.2:g.75516846G>A	GRCh38
NC_000017.10:g.73512927G>A , CM000679.1:g.73512927G>A	GRCh37
NC_000017.9:g.71024522G>A	NCBI36
NG_013041.1:g.5319G>A
NG_033152.1:g.3738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.157G>A MANE Select	ENSP00000327487.6:p.Glu53Lys
ENST00000434205.8:c.-82-163G>A	ENSP00000406559.4:n.-82-163G>A
ENST00000545228.3:c.157G>A	ENSP00000438169.3:p.Glu53Lys
ENST00000579449.2:n.21-163G>A
ENST00000580013.6:n.166G>A
ENST00000583818.2:c.157G>A	ENSP00000461928.2:p.Glu53Lys
ENST00000679370.1:n.544G>A
ENST00000679429.1:c.157G>A	ENSP00000505403.1:p.Glu53Lys
ENST00000679443.1:n.32G>A
ENST00000679782.1:c.157G>A	ENSP00000505995.1:p.Glu53Lys
ENST00000679919.1:n.32G>A
ENST00000679928.1:c.157G>A	ENSP00000506071.1:p.Glu53Lys
ENST00000680528.1:n.182G>A
ENST00000680999.1:c.157G>A	ENSP00000504984.1:p.Glu53Lys
ENST00000681282.1:c.157G>A	ENSP00000506339.1:p.Glu53Lys
ENST00000333213.10:c.157G>A	ENSP00000327487.6:p.Glu53Lys
ENST00000434205.7:c.-82-163G>A	ENSP00000406559.3:n.-82-163G>A
ENST00000578415.1:c.35G>A
ENST00000580013.5:n.182G>A
ENST00000583173.5:c.57-163G>A	ENSP00000463619.1:n.57-163G>A
ENST00000583454.1:n.192G>A
ENST00000583818.1:c.52G>A	ENSP00000461928.1:p.Glu18Lys
NM_207346.2:c.157G>A	NP_997229.2:p.Glu53Lys
XM_005257229.2:c.157G>A	XP_005257286.1:p.Glu53Lys
XM_006721821.2:c.-147G>A	XP_006721884.1:n.-147G>A
XM_011524616.1:c.157G>A	XP_011522918.1:p.Glu53Lys
XM_011524617.1:c.157G>A	XP_011522919.1:p.Glu53Lys
XM_011524618.1:c.157G>A	XP_011522920.1:p.Glu53Lys
XR_243646.2:n.187G>A
XM_005257229.4:c.157G>A	XP_005257286.1:p.Glu53Lys
XR_243646.4:n.193G>A
NM_207346.3:c.157G>A MANE Select	NP_997229.2:p.Glu53Lys