Canonical Allele Identifier: CA401031321

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520428G>A (hg19) ; chr17:g.75524347G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524347G>A , CM000679.2:g.75524347G>A	GRCh38
NC_000017.10:g.73520428G>A , CM000679.1:g.73520428G>A	GRCh37
NC_000017.9:g.71032023G>A	NCBI36
NG_013041.1:g.12820G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1516G>A MANE Select	ENSP00000327487.6:p.Asp506Asn
ENST00000434205.8:c.1213G>A	ENSP00000406559.4:p.Asp405Asn
ENST00000545228.3:c.*15G>A	ENSP00000438169.3:n.*15G>A
ENST00000577197.2:n.714G>A
ENST00000579449.2:n.2256G>A
ENST00000580013.6:n.2660G>A
ENST00000679370.1:n.3038G>A
ENST00000679429.1:c.*974G>A	ENSP00000505403.1:n.*974G>A
ENST00000679443.1:n.1585G>A
ENST00000679782.1:c.*215G>A	ENSP00000505995.1:n.*215G>A
ENST00000679919.1:n.1787G>A
ENST00000679928.1:c.*2068G>A	ENSP00000506071.1:n.*2068G>A
ENST00000680528.1:n.2482G>A
ENST00000680999.1:c.1729G>A	ENSP00000504984.1:p.Asp577Asn
ENST00000681282.1:c.*1703G>A	ENSP00000506339.1:n.*1703G>A
ENST00000333213.10:c.1516G>A	ENSP00000327487.6:p.Asp506Asn
ENST00000545228.2:c.793G>A
ENST00000577197.1:n.264G>A
ENST00000579449.1:n.713G>A
NM_207346.2:c.1516G>A	NP_997229.2:p.Asp506Asn
XM_005257229.2:c.*15G>A	XP_005257286.1:n.*15G>A
XM_006721821.2:c.*15G>A	XP_006721884.1:n.*15G>A
XM_011524616.1:c.*15G>A	XP_011522918.1:n.*15G>A
XM_011524617.1:c.*98G>A	XP_011522919.1:n.*98G>A
XM_011524618.1:c.1399G>A	XP_011522920.1:p.Asp467Asn
XR_243646.2:n.1748G>A
XM_005257229.4:c.*15G>A	XP_005257286.1:n.*15G>A
XR_001753015.1:n.51C>T
XR_001753016.1:n.52C>T
XR_243646.4:n.1754G>A
NM_207346.3:c.1516G>A MANE Select	NP_997229.2:p.Asp506Asn