Canonical Allele Identifier: CA401027062

Gene: TSEN54

Linked Data

• dbSNP Id: rs1312275504
• gnomAD v3: 17-75516820-T-C
• gnomAD v4: 17-75516820-T-C
• MyVariant Identifiers: chr17:g.73512901T>C (hg19) ; chr17:g.75516820T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516820T>C , CM000679.2:g.75516820T>C	GRCh38
NC_000017.10:g.73512901T>C , CM000679.1:g.73512901T>C	GRCh37
NC_000017.9:g.71024496T>C	NCBI36
NG_013041.1:g.5293T>C
NG_033152.1:g.3764A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.131T>C MANE Select	ENSP00000327487.6:p.Leu44Pro
ENST00000434205.8:c.-82-189T>C	ENSP00000406559.4:n.-82-189T>C
ENST00000545228.3:c.131T>C	ENSP00000438169.3:p.Leu44Pro
ENST00000579449.2:n.21-189T>C
ENST00000580013.6:n.140T>C
ENST00000583818.2:c.131T>C	ENSP00000461928.2:p.Leu44Pro
ENST00000679370.1:n.518T>C
ENST00000679429.1:c.131T>C	ENSP00000505403.1:p.Leu44Pro
ENST00000679443.1:n.6T>C
ENST00000679782.1:c.131T>C	ENSP00000505995.1:p.Leu44Pro
ENST00000679919.1:n.6T>C
ENST00000679928.1:c.131T>C	ENSP00000506071.1:p.Leu44Pro
ENST00000680528.1:n.156T>C
ENST00000680999.1:c.131T>C	ENSP00000504984.1:p.Leu44Pro
ENST00000681282.1:c.131T>C	ENSP00000506339.1:p.Leu44Pro
ENST00000333213.10:c.131T>C	ENSP00000327487.6:p.Leu44Pro
ENST00000434205.7:c.-82-189T>C	ENSP00000406559.3:n.-82-189T>C
ENST00000578415.1:c.9T>C
ENST00000580013.5:n.156T>C
ENST00000583173.5:c.57-189T>C	ENSP00000463619.1:n.57-189T>C
ENST00000583454.1:n.166T>C
ENST00000583818.1:c.26T>C	ENSP00000461928.1:p.Leu9Pro
NM_207346.2:c.131T>C	NP_997229.2:p.Leu44Pro
XM_005257229.2:c.131T>C	XP_005257286.1:p.Leu44Pro
XM_006721821.2:c.-173T>C	XP_006721884.1:n.-173T>C
XM_011524616.1:c.131T>C	XP_011522918.1:p.Leu44Pro
XM_011524617.1:c.131T>C	XP_011522919.1:p.Leu44Pro
XM_011524618.1:c.131T>C	XP_011522920.1:p.Leu44Pro
XR_243646.2:n.161T>C
XM_005257229.4:c.131T>C	XP_005257286.1:p.Leu44Pro
XR_243646.4:n.167T>C
NM_207346.3:c.131T>C MANE Select	NP_997229.2:p.Leu44Pro