Canonical Allele Identifier: CA401031210

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524315-G-A
• MyVariant Identifiers: chr17:g.73520396G>A (hg19) ; chr17:g.75524315G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524315G>A , CM000679.2:g.75524315G>A	GRCh38
NC_000017.10:g.73520396G>A , CM000679.1:g.73520396G>A	GRCh37
NC_000017.9:g.71031991G>A	NCBI36
NG_013041.1:g.12788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1484G>A MANE Select	ENSP00000327487.6:p.Ser495Asn
ENST00000434205.8:c.1181G>A	ENSP00000406559.4:p.Ser394Asn
ENST00000545228.3:c.1672G>A	ENSP00000438169.3:p.Val558Met
ENST00000577197.2:n.682G>A
ENST00000579449.2:n.2224G>A
ENST00000580013.6:n.2628G>A
ENST00000679370.1:n.3006G>A
ENST00000679429.1:c.*942G>A	ENSP00000505403.1:n.*942G>A
ENST00000679443.1:n.1553G>A
ENST00000679782.1:c.*183G>A	ENSP00000505995.1:n.*183G>A
ENST00000679919.1:n.1755G>A
ENST00000679928.1:c.*2036G>A	ENSP00000506071.1:n.*2036G>A
ENST00000680528.1:n.2450G>A
ENST00000680999.1:c.1697G>A	ENSP00000504984.1:p.Ser566Asn
ENST00000681282.1:c.*1671G>A	ENSP00000506339.1:n.*1671G>A
ENST00000333213.10:c.1484G>A	ENSP00000327487.6:p.Ser495Asn
ENST00000545228.2:c.761G>A
ENST00000577197.1:n.232G>A
ENST00000579449.1:n.681G>A
NM_207346.2:c.1484G>A	NP_997229.2:p.Ser495Asn
XM_005257229.2:c.1672G>A	XP_005257286.1:p.Val558Met
XM_006721821.2:c.1369G>A	XP_006721884.1:p.Val457Met
XM_011524616.1:c.1555G>A	XP_011522918.1:p.Val519Met
XM_011524617.1:c.*66G>A	XP_011522919.1:n.*66G>A
XM_011524618.1:c.1367G>A	XP_011522920.1:p.Ser456Asn
XR_243646.2:n.1716G>A
XM_005257229.4:c.1672G>A	XP_005257286.1:p.Val558Met
XR_001753015.1:n.83C>T
XR_001753016.1:n.84C>T
XR_243646.4:n.1722G>A
NM_207346.3:c.1484G>A MANE Select	NP_997229.2:p.Ser495Asn