Canonical Allele Identifier: CA401031045

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520350G>C (hg19) ; chr17:g.75524269G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524269G>C , CM000679.2:g.75524269G>C	GRCh38
NC_000017.10:g.73520350G>C , CM000679.1:g.73520350G>C	GRCh37
NC_000017.9:g.71031945G>C	NCBI36
NG_013041.1:g.12742G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1438G>C MANE Select	ENSP00000327487.6:p.Glu480Gln
ENST00000434205.8:c.1135G>C	ENSP00000406559.4:p.Glu379Gln
ENST00000545228.3:c.1626G>C	ENSP00000438169.3:p.Met542Ile
ENST00000577197.2:n.636G>C
ENST00000579449.2:n.2178G>C
ENST00000580013.6:n.2582G>C
ENST00000679370.1:n.2960G>C
ENST00000679429.1:c.*896G>C	ENSP00000505403.1:n.*896G>C
ENST00000679443.1:n.1507G>C
ENST00000679782.1:c.*137G>C	ENSP00000505995.1:n.*137G>C
ENST00000679919.1:n.1709G>C
ENST00000679928.1:c.*1990G>C	ENSP00000506071.1:n.*1990G>C
ENST00000680528.1:n.2404G>C
ENST00000680999.1:c.1651G>C	ENSP00000504984.1:p.Glu551Gln
ENST00000681282.1:c.*1625G>C	ENSP00000506339.1:n.*1625G>C
ENST00000333213.10:c.1438G>C	ENSP00000327487.6:p.Glu480Gln
ENST00000545228.2:c.715G>C
ENST00000577197.1:n.186G>C
ENST00000579449.1:n.635G>C
NM_207346.2:c.1438G>C	NP_997229.2:p.Glu480Gln
XM_005257229.2:c.1626G>C	XP_005257286.1:p.Met542Ile
XM_006721821.2:c.1323G>C	XP_006721884.1:p.Met441Ile
XM_011524616.1:c.1509G>C	XP_011522918.1:p.Met503Ile
XM_011524617.1:c.*20G>C	XP_011522919.1:n.*20G>C
XM_011524618.1:c.1321G>C	XP_011522920.1:p.Glu441Gln
XR_243646.2:n.1670G>C
XM_005257229.4:c.1626G>C	XP_005257286.1:p.Met542Ile
XR_001753015.1:n.87+42C>G
XR_001753016.1:n.88+42C>G
XR_243646.4:n.1676G>C
NM_207346.3:c.1438G>C MANE Select	NP_997229.2:p.Glu480Gln