Canonical Allele Identifier: CA8764457

Gene: TSEN54

Linked Data

• dbSNP Id: rs775632315
• ExAC: 17:73520379 G / C
• gnomAD v2: 17-73520379-G-C
• MyVariant Identifiers: chr17:g.73520379G>C (hg19) ; chr17:g.75524298G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524298G>C , CM000679.2:g.75524298G>C	GRCh38
NC_000017.10:g.73520379G>C , CM000679.1:g.73520379G>C	GRCh37
NC_000017.9:g.71031974G>C	NCBI36
NG_013041.1:g.12771G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1467G>C MANE Select	ENSP00000327487.6:p.Lys489Asn
ENST00000434205.8:c.1164G>C	ENSP00000406559.4:p.Lys388Asn
ENST00000545228.3:c.1655G>C	ENSP00000438169.3:p.Ser552Thr
ENST00000577197.2:n.665G>C
ENST00000579449.2:n.2207G>C
ENST00000580013.6:n.2611G>C
ENST00000679370.1:n.2989G>C
ENST00000679429.1:c.*925G>C	ENSP00000505403.1:n.*925G>C
ENST00000679443.1:n.1536G>C
ENST00000679782.1:c.*166G>C	ENSP00000505995.1:n.*166G>C
ENST00000679919.1:n.1738G>C
ENST00000679928.1:c.*2019G>C	ENSP00000506071.1:n.*2019G>C
ENST00000680528.1:n.2433G>C
ENST00000680999.1:c.1680G>C	ENSP00000504984.1:p.Lys560Asn
ENST00000681282.1:c.*1654G>C	ENSP00000506339.1:n.*1654G>C
ENST00000333213.10:c.1467G>C	ENSP00000327487.6:p.Lys489Asn
ENST00000545228.2:c.744G>C
ENST00000577197.1:n.215G>C
ENST00000579449.1:n.664G>C
NM_207346.2:c.1467G>C	NP_997229.2:p.Lys489Asn
XM_005257229.2:c.1655G>C	XP_005257286.1:p.Ser552Thr
XM_006721821.2:c.1352G>C	XP_006721884.1:p.Ser451Thr
XM_011524616.1:c.1538G>C	XP_011522918.1:p.Ser513Thr
XM_011524617.1:c.*49G>C	XP_011522919.1:n.*49G>C
XM_011524618.1:c.1350G>C	XP_011522920.1:p.Lys450Asn
XR_243646.2:n.1699G>C
XM_005257229.4:c.1655G>C	XP_005257286.1:p.Ser552Thr
XR_001753015.1:n.87+13C>G
XR_001753016.1:n.88+13C>G
XR_243646.4:n.1705G>C
NM_207346.3:c.1467G>C MANE Select	NP_997229.2:p.Lys489Asn