Canonical Allele Identifier: CA294080991

Gene: TSEN54

Linked Data

• dbSNP Id: rs771244483
• gnomAD v3: 17-75524578-C-T
• gnomAD v4: 17-75524578-C-T
• MyVariant Identifiers: chr17:g.75524578C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524578C>T , CM000679.2:g.75524578C>T	GRCh38
NC_000017.10:g.73520659C>T , CM000679.1:g.73520659C>T	GRCh37
NC_000017.9:g.71032254C>T	NCBI36
NG_013041.1:g.13051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*166C>T MANE Select	ENSP00000327487.6:n.*166C>T
ENST00000434205.8:c.*166C>T	ENSP00000406559.4:n.*166C>T
ENST00000545228.3:c.*246C>T	ENSP00000438169.3:n.*246C>T
ENST00000577197.2:n.945C>T
ENST00000579449.2:n.2487C>T
ENST00000580013.6:n.2891C>T
ENST00000679370.1:n.3269C>T
ENST00000679429.1:c.*1205C>T	ENSP00000505403.1:n.*1205C>T
ENST00000679443.1:n.1816C>T
ENST00000679782.1:c.*446C>T	ENSP00000505995.1:n.*446C>T
ENST00000679919.1:n.2018C>T
ENST00000679928.1:c.*2299C>T	ENSP00000506071.1:n.*2299C>T
ENST00000680999.1:c.*166C>T	ENSP00000504984.1:n.*166C>T
ENST00000681282.1:c.*1934C>T	ENSP00000506339.1:n.*1934C>T
ENST00000333213.10:c.*166C>T	ENSP00000327487.6:n.*166C>T
ENST00000545228.2:c.1024C>T
ENST00000577197.1:n.495C>T
NM_207346.2:c.*166C>T	NP_997229.2:n.*166C>T
XM_005257229.2:c.*246C>T	XP_005257286.1:n.*246C>T
XM_006721821.2:c.*246C>T	XP_006721884.1:n.*246C>T
XM_011524616.1:c.*246C>T	XP_011522918.1:n.*246C>T
XM_011524618.1:c.*166C>T	XP_011522920.1:n.*166C>T
XR_243646.2:n.1979C>T
XM_005257229.4:c.*246C>T	XP_005257286.1:n.*246C>T
XR_243646.4:n.1985C>T
NM_207346.3:c.*166C>T MANE Select	NP_997229.2:n.*166C>T