Canonical Allele Identifier: CA501819501

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524337-T-C
• MyVariant Identifiers: chr17:g.73520418T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524337T>C , CM000679.2:g.75524337T>C	GRCh38
NC_000017.10:g.73520418T>C , CM000679.1:g.73520418T>C	GRCh37
NC_000017.9:g.71032013T>C	NCBI36
NG_013041.1:g.12810T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1506T>C MANE Select	ENSP00000327487.6:p.Phe502=
ENST00000434205.8:c.1203T>C	ENSP00000406559.4:p.Phe401=
ENST00000545228.3:c.*5T>C	ENSP00000438169.3:n.*5T>C
ENST00000577197.2:n.704T>C
ENST00000579449.2:n.2246T>C
ENST00000580013.6:n.2650T>C
ENST00000679370.1:n.3028T>C
ENST00000679429.1:c.*964T>C	ENSP00000505403.1:n.*964T>C
ENST00000679443.1:n.1575T>C
ENST00000679782.1:c.*205T>C	ENSP00000505995.1:n.*205T>C
ENST00000679919.1:n.1777T>C
ENST00000679928.1:c.*2058T>C	ENSP00000506071.1:n.*2058T>C
ENST00000680528.1:n.2472T>C
ENST00000680999.1:c.1719T>C	ENSP00000504984.1:p.Phe573=
ENST00000681282.1:c.*1693T>C	ENSP00000506339.1:n.*1693T>C
ENST00000333213.10:c.1506T>C	ENSP00000327487.6:p.Phe502=
ENST00000545228.2:c.783T>C
ENST00000577197.1:n.254T>C
ENST00000579449.1:n.703T>C
NM_207346.2:c.1506T>C	NP_997229.2:p.Phe502=
XM_005257229.2:c.*5T>C	XP_005257286.1:n.*5T>C
XM_006721821.2:c.*5T>C	XP_006721884.1:n.*5T>C
XM_011524616.1:c.*5T>C	XP_011522918.1:n.*5T>C
XM_011524617.1:c.*88T>C	XP_011522919.1:n.*88T>C
XM_011524618.1:c.1389T>C	XP_011522920.1:p.Phe463=
XR_243646.2:n.1738T>C
XM_005257229.4:c.*5T>C	XP_005257286.1:n.*5T>C
XR_001753015.1:n.61A>G
XR_001753016.1:n.62A>G
XR_243646.4:n.1744T>C
NM_207346.3:c.1506T>C MANE Select	NP_997229.2:p.Phe502=