Canonical Allele Identifier: CA401028262

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73517542C>A (hg19) ; chr17:g.75521461C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521461C>A , CM000679.2:g.75521461C>A	GRCh38
NC_000017.10:g.73517542C>A , CM000679.1:g.73517542C>A	GRCh37
NC_000017.9:g.71029137C>A	NCBI36
NG_013041.1:g.9934C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.574C>A MANE Select	ENSP00000327487.6:p.His192Asn
ENST00000434205.8:c.271C>A	ENSP00000406559.4:p.His91Asn
ENST00000545228.3:c.574C>A	ENSP00000438169.3:p.His192Asn
ENST00000579449.2:n.373C>A
ENST00000580013.6:n.583C>A
ENST00000583818.2:c.628C>A	ENSP00000461928.2:n.628C>A
ENST00000679370.1:n.961C>A
ENST00000679429.1:c.*32C>A	ENSP00000505403.1:n.*32C>A
ENST00000679443.1:n.449C>A
ENST00000679782.1:c.574C>A	ENSP00000505995.1:p.His192Asn
ENST00000679919.1:n.449C>A
ENST00000679928.1:c.*185C>A	ENSP00000506071.1:n.*185C>A
ENST00000680528.1:n.599C>A
ENST00000680999.1:c.574C>A	ENSP00000504984.1:p.His192Asn
ENST00000681282.1:c.574C>A	ENSP00000506339.1:p.His192Asn
ENST00000333213.10:c.574C>A	ENSP00000327487.6:p.His192Asn
ENST00000578415.1:c.534C>A
ENST00000583173.5:c.409C>A	ENSP00000463619.1:p.His137Asn
ENST00000583818.1:c.523C>A	ENSP00000461928.1:n.523C>A
NM_207346.2:c.574C>A	NP_997229.2:p.His192Asn
XM_005257229.2:c.574C>A	XP_005257286.1:p.His192Asn
XM_006721821.2:c.271C>A	XP_006721884.1:p.His91Asn
XM_011524616.1:c.574C>A	XP_011522918.1:p.His192Asn
XM_011524617.1:c.574C>A	XP_011522919.1:p.His192Asn
XM_011524618.1:c.574C>A	XP_011522920.1:p.His192Asn
XR_243646.2:n.604C>A
XM_005257229.4:c.574C>A	XP_005257286.1:p.His192Asn
XR_243646.4:n.610C>A
NM_207346.3:c.574C>A MANE Select	NP_997229.2:p.His192Asn