Canonical Allele Identifier: CA775078754

Gene: TSEN54

Linked Data

• dbSNP Id: rs1162007536
• MyVariant Identifiers: chr17:g.73520745C>T (hg19) ; chr17:g.75524664C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524664C>T , CM000679.2:g.75524664C>T	GRCh38
NC_000017.10:g.73520745C>T , CM000679.1:g.73520745C>T	GRCh37
NC_000017.9:g.71032340C>T	NCBI36
NG_013041.1:g.13137C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*252C>T MANE Select	ENSP00000327487.6:n.*252C>T
ENST00000434205.8:c.*252C>T	ENSP00000406559.4:n.*252C>T
ENST00000545228.3:c.*332C>T	ENSP00000438169.3:n.*332C>T
ENST00000577197.2:n.1031C>T
ENST00000579449.2:n.2573C>T
ENST00000580013.6:n.2977C>T
ENST00000679370.1:n.3355C>T
ENST00000679429.1:c.*1291C>T	ENSP00000505403.1:n.*1291C>T
ENST00000679443.1:n.1902C>T
ENST00000679782.1:c.*532C>T	ENSP00000505995.1:n.*532C>T
ENST00000679919.1:n.2104C>T
ENST00000679928.1:c.*2385C>T	ENSP00000506071.1:n.*2385C>T
ENST00000680999.1:c.*252C>T	ENSP00000504984.1:n.*252C>T
ENST00000681282.1:c.*2020C>T	ENSP00000506339.1:n.*2020C>T
ENST00000333213.10:c.*252C>T	ENSP00000327487.6:n.*252C>T
ENST00000545228.2:c.1110C>T
ENST00000577197.1:n.581C>T
NM_207346.2:c.*252C>T	NP_997229.2:n.*252C>T
XM_005257229.2:c.*332C>T	XP_005257286.1:n.*332C>T
XM_006721821.2:c.*332C>T	XP_006721884.1:n.*332C>T
XM_011524616.1:c.*332C>T	XP_011522918.1:n.*332C>T
XM_011524618.1:c.*252C>T	XP_011522920.1:n.*252C>T
XR_243646.2:n.2065C>T
XM_005257229.4:c.*332C>T	XP_005257286.1:n.*332C>T
XR_243646.4:n.2071C>T
NM_207346.3:c.*252C>T MANE Select	NP_997229.2:n.*252C>T