Canonical Allele Identifier: CA775078750

Gene: TSEN54

Linked Data

• dbSNP Id: rs1437105590
• gnomAD v4: 17-75524647-T-C
• MyVariant Identifiers: chr17:g.73520728T>C (hg19) ; chr17:g.75524647T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524647T>C , CM000679.2:g.75524647T>C	GRCh38
NC_000017.10:g.73520728T>C , CM000679.1:g.73520728T>C	GRCh37
NC_000017.9:g.71032323T>C	NCBI36
NG_013041.1:g.13120T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*235T>C MANE Select	ENSP00000327487.6:n.*235T>C
ENST00000434205.8:c.*235T>C	ENSP00000406559.4:n.*235T>C
ENST00000545228.3:c.*315T>C	ENSP00000438169.3:n.*315T>C
ENST00000577197.2:n.1014T>C
ENST00000579449.2:n.2556T>C
ENST00000580013.6:n.2960T>C
ENST00000679370.1:n.3338T>C
ENST00000679429.1:c.*1274T>C	ENSP00000505403.1:n.*1274T>C
ENST00000679443.1:n.1885T>C
ENST00000679782.1:c.*515T>C	ENSP00000505995.1:n.*515T>C
ENST00000679919.1:n.2087T>C
ENST00000679928.1:c.*2368T>C	ENSP00000506071.1:n.*2368T>C
ENST00000680999.1:c.*235T>C	ENSP00000504984.1:n.*235T>C
ENST00000681282.1:c.*2003T>C	ENSP00000506339.1:n.*2003T>C
ENST00000333213.10:c.*235T>C	ENSP00000327487.6:n.*235T>C
ENST00000545228.2:c.1093T>C
ENST00000577197.1:n.564T>C
NM_207346.2:c.*235T>C	NP_997229.2:n.*235T>C
XM_005257229.2:c.*315T>C	XP_005257286.1:n.*315T>C
XM_006721821.2:c.*315T>C	XP_006721884.1:n.*315T>C
XM_011524616.1:c.*315T>C	XP_011522918.1:n.*315T>C
XM_011524618.1:c.*235T>C	XP_011522920.1:n.*235T>C
XR_243646.2:n.2048T>C
XM_005257229.4:c.*315T>C	XP_005257286.1:n.*315T>C
XR_243646.4:n.2054T>C
NM_207346.3:c.*235T>C MANE Select	NP_997229.2:n.*235T>C