Canonical Allele Identifier: CA401031029

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053474518
• gnomAD v3: 17-75524266-G-A
• gnomAD v4: 17-75524266-G-A
• MyVariant Identifiers: chr17:g.73520347G>A (hg19) ; chr17:g.75524266G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524266G>A , CM000679.2:g.75524266G>A	GRCh38
NC_000017.10:g.73520347G>A , CM000679.1:g.73520347G>A	GRCh37
NC_000017.9:g.71031942G>A	NCBI36
NG_013041.1:g.12739G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1435G>A MANE Select	ENSP00000327487.6:p.Asp479Asn
ENST00000434205.8:c.1132G>A	ENSP00000406559.4:p.Asp378Asn
ENST00000545228.3:c.1623G>A	ENSP00000438169.3:p.Leu541=
ENST00000577197.2:n.633G>A
ENST00000579449.2:n.2175G>A
ENST00000580013.6:n.2579G>A
ENST00000679370.1:n.2957G>A
ENST00000679429.1:c.*893G>A	ENSP00000505403.1:n.*893G>A
ENST00000679443.1:n.1504G>A
ENST00000679782.1:c.*134G>A	ENSP00000505995.1:n.*134G>A
ENST00000679919.1:n.1706G>A
ENST00000679928.1:c.*1987G>A	ENSP00000506071.1:n.*1987G>A
ENST00000680528.1:n.2401G>A
ENST00000680999.1:c.1648G>A	ENSP00000504984.1:p.Asp550Asn
ENST00000681282.1:c.*1622G>A	ENSP00000506339.1:n.*1622G>A
ENST00000333213.10:c.1435G>A	ENSP00000327487.6:p.Asp479Asn
ENST00000545228.2:c.712G>A
ENST00000577197.1:n.183G>A
ENST00000579449.1:n.632G>A
NM_207346.2:c.1435G>A	NP_997229.2:p.Asp479Asn
XM_005257229.2:c.1623G>A	XP_005257286.1:p.Leu541=
XM_006721821.2:c.1320G>A	XP_006721884.1:p.Leu440=
XM_011524616.1:c.1506G>A	XP_011522918.1:p.Leu502=
XM_011524617.1:c.*17G>A	XP_011522919.1:n.*17G>A
XM_011524618.1:c.1318G>A	XP_011522920.1:p.Asp440Asn
XR_243646.2:n.1667G>A
XM_005257229.4:c.1623G>A	XP_005257286.1:p.Leu541=
XR_001753015.1:n.87+45C>T
XR_001753016.1:n.88+45C>T
XR_243646.4:n.1673G>A
NM_207346.3:c.1435G>A MANE Select	NP_997229.2:p.Asp479Asn