Canonical Allele Identifier: CA775078775

Gene: TSEN54

Linked Data

• dbSNP Id: rs1489722709
• gnomAD v4: 17-75524693-T-C
• MyVariant Identifiers: chr17:g.73520774T>C (hg19) ; chr17:g.75524693T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524693T>C , CM000679.2:g.75524693T>C	GRCh38
NC_000017.10:g.73520774T>C , CM000679.1:g.73520774T>C	GRCh37
NC_000017.9:g.71032369T>C	NCBI36
NG_013041.1:g.13166T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*281T>C MANE Select	ENSP00000327487.6:n.*281T>C
ENST00000434205.8:c.*281T>C	ENSP00000406559.4:n.*281T>C
ENST00000545228.3:c.*361T>C	ENSP00000438169.3:n.*361T>C
ENST00000577197.2:n.1060T>C
ENST00000579449.2:n.2602T>C
ENST00000580013.6:n.3006T>C
ENST00000679370.1:n.3384T>C
ENST00000679429.1:c.*1320T>C	ENSP00000505403.1:n.*1320T>C
ENST00000679443.1:n.1931T>C
ENST00000679782.1:c.*561T>C	ENSP00000505995.1:n.*561T>C
ENST00000679919.1:n.2133T>C
ENST00000679928.1:c.*2414T>C	ENSP00000506071.1:n.*2414T>C
ENST00000680999.1:c.*281T>C	ENSP00000504984.1:n.*281T>C
ENST00000681282.1:c.*2049T>C	ENSP00000506339.1:n.*2049T>C
ENST00000333213.10:c.*281T>C	ENSP00000327487.6:n.*281T>C
ENST00000545228.2:c.1139T>C
ENST00000577197.1:n.610T>C
NM_207346.2:c.*281T>C	NP_997229.2:n.*281T>C
XM_005257229.2:c.*361T>C	XP_005257286.1:n.*361T>C
XM_006721821.2:c.*361T>C	XP_006721884.1:n.*361T>C
XM_011524616.1:c.*361T>C	XP_011522918.1:n.*361T>C
XM_011524618.1:c.*281T>C	XP_011522920.1:n.*281T>C
XR_243646.2:n.2094T>C
XM_005257229.4:c.*361T>C	XP_005257286.1:n.*361T>C
XR_243646.4:n.2100T>C
NM_207346.3:c.*281T>C MANE Select	NP_997229.2:n.*281T>C