Canonical Allele Identifier: CA401031083

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520362G>C (hg19) ; chr17:g.75524281G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524281G>C , CM000679.2:g.75524281G>C	GRCh38
NC_000017.10:g.73520362G>C , CM000679.1:g.73520362G>C	GRCh37
NC_000017.9:g.71031957G>C	NCBI36
NG_013041.1:g.12754G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1450G>C MANE Select	ENSP00000327487.6:p.Asp484His
ENST00000434205.8:c.1147G>C	ENSP00000406559.4:p.Asp383His
ENST00000545228.3:c.1638G>C	ENSP00000438169.3:p.Gln546His
ENST00000577197.2:n.648G>C
ENST00000579449.2:n.2190G>C
ENST00000580013.6:n.2594G>C
ENST00000679370.1:n.2972G>C
ENST00000679429.1:c.*908G>C	ENSP00000505403.1:n.*908G>C
ENST00000679443.1:n.1519G>C
ENST00000679782.1:c.*149G>C	ENSP00000505995.1:n.*149G>C
ENST00000679919.1:n.1721G>C
ENST00000679928.1:c.*2002G>C	ENSP00000506071.1:n.*2002G>C
ENST00000680528.1:n.2416G>C
ENST00000680999.1:c.1663G>C	ENSP00000504984.1:p.Asp555His
ENST00000681282.1:c.*1637G>C	ENSP00000506339.1:n.*1637G>C
ENST00000333213.10:c.1450G>C	ENSP00000327487.6:p.Asp484His
ENST00000545228.2:c.727G>C
ENST00000577197.1:n.198G>C
ENST00000579449.1:n.647G>C
NM_207346.2:c.1450G>C	NP_997229.2:p.Asp484His
XM_005257229.2:c.1638G>C	XP_005257286.1:p.Gln546His
XM_006721821.2:c.1335G>C	XP_006721884.1:p.Gln445His
XM_011524616.1:c.1521G>C	XP_011522918.1:p.Gln507His
XM_011524617.1:c.*32G>C	XP_011522919.1:n.*32G>C
XM_011524618.1:c.1333G>C	XP_011522920.1:p.Asp445His
XR_243646.2:n.1682G>C
XM_005257229.4:c.1638G>C	XP_005257286.1:p.Gln546His
XR_001753015.1:n.87+30C>G
XR_001753016.1:n.88+30C>G
XR_243646.4:n.1688G>C
NM_207346.3:c.1450G>C MANE Select	NP_997229.2:p.Asp484His