Canonical Allele Identifier: CA401031229

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520401G>C (hg19) ; chr17:g.75524320G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524320G>C , CM000679.2:g.75524320G>C	GRCh38
NC_000017.10:g.73520401G>C , CM000679.1:g.73520401G>C	GRCh37
NC_000017.9:g.71031996G>C	NCBI36
NG_013041.1:g.12793G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1489G>C MANE Select	ENSP00000327487.6:p.Asp497His
ENST00000434205.8:c.1186G>C	ENSP00000406559.4:p.Asp396His
ENST00000545228.3:c.1677G>C	ENSP00000438169.3:p.Gly559=
ENST00000577197.2:n.687G>C
ENST00000579449.2:n.2229G>C
ENST00000580013.6:n.2633G>C
ENST00000679370.1:n.3011G>C
ENST00000679429.1:c.*947G>C	ENSP00000505403.1:n.*947G>C
ENST00000679443.1:n.1558G>C
ENST00000679782.1:c.*188G>C	ENSP00000505995.1:n.*188G>C
ENST00000679919.1:n.1760G>C
ENST00000679928.1:c.*2041G>C	ENSP00000506071.1:n.*2041G>C
ENST00000680528.1:n.2455G>C
ENST00000680999.1:c.1702G>C	ENSP00000504984.1:p.Asp568His
ENST00000681282.1:c.*1676G>C	ENSP00000506339.1:n.*1676G>C
ENST00000333213.10:c.1489G>C	ENSP00000327487.6:p.Asp497His
ENST00000545228.2:c.766G>C
ENST00000577197.1:n.237G>C
ENST00000579449.1:n.686G>C
NM_207346.2:c.1489G>C	NP_997229.2:p.Asp497His
XM_005257229.2:c.1677G>C	XP_005257286.1:p.Gly559=
XM_006721821.2:c.1374G>C	XP_006721884.1:p.Gly458=
XM_011524616.1:c.1560G>C	XP_011522918.1:p.Gly520=
XM_011524617.1:c.*71G>C	XP_011522919.1:n.*71G>C
XM_011524618.1:c.1372G>C	XP_011522920.1:p.Asp458His
XR_243646.2:n.1721G>C
XM_005257229.4:c.1677G>C	XP_005257286.1:p.Gly559=
XR_001753015.1:n.78C>G
XR_001753016.1:n.79C>G
XR_243646.4:n.1727G>C
NM_207346.3:c.1489G>C MANE Select	NP_997229.2:p.Asp497His