Canonical Allele Identifier: CA401031335

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520431C>A (hg19) ; chr17:g.75524350C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524350C>A , CM000679.2:g.75524350C>A	GRCh38
NC_000017.10:g.73520431C>A , CM000679.1:g.73520431C>A	GRCh37
NC_000017.9:g.71032026C>A	NCBI36
NG_013041.1:g.12823C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1519C>A MANE Select	ENSP00000327487.6:p.His507Asn
ENST00000434205.8:c.1216C>A	ENSP00000406559.4:p.His406Asn
ENST00000545228.3:c.*18C>A	ENSP00000438169.3:n.*18C>A
ENST00000577197.2:n.717C>A
ENST00000579449.2:n.2259C>A
ENST00000580013.6:n.2663C>A
ENST00000679370.1:n.3041C>A
ENST00000679429.1:c.*977C>A	ENSP00000505403.1:n.*977C>A
ENST00000679443.1:n.1588C>A
ENST00000679782.1:c.*218C>A	ENSP00000505995.1:n.*218C>A
ENST00000679919.1:n.1790C>A
ENST00000679928.1:c.*2071C>A	ENSP00000506071.1:n.*2071C>A
ENST00000680528.1:n.2485C>A
ENST00000680999.1:c.1732C>A	ENSP00000504984.1:p.His578Asn
ENST00000681282.1:c.*1706C>A	ENSP00000506339.1:n.*1706C>A
ENST00000333213.10:c.1519C>A	ENSP00000327487.6:p.His507Asn
ENST00000545228.2:c.796C>A
ENST00000577197.1:n.267C>A
ENST00000579449.1:n.716C>A
NM_207346.2:c.1519C>A	NP_997229.2:p.His507Asn
XM_005257229.2:c.*18C>A	XP_005257286.1:n.*18C>A
XM_006721821.2:c.*18C>A	XP_006721884.1:n.*18C>A
XM_011524616.1:c.*18C>A	XP_011522918.1:n.*18C>A
XM_011524617.1:c.*101C>A	XP_011522919.1:n.*101C>A
XM_011524618.1:c.1402C>A	XP_011522920.1:p.His468Asn
XR_243646.2:n.1751C>A
XM_005257229.4:c.*18C>A	XP_005257286.1:n.*18C>A
XR_001753015.1:n.48G>T
XR_001753016.1:n.49G>T
XR_243646.4:n.1757C>A
NM_207346.3:c.1519C>A MANE Select	NP_997229.2:p.His507Asn