Canonical Allele Identifier: CA401026807

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516572-G-C
• MyVariant Identifiers: chr17:g.73512653G>C (hg19) ; chr17:g.75516572G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516572G>C , CM000679.2:g.75516572G>C	GRCh38
NC_000017.10:g.73512653G>C , CM000679.1:g.73512653G>C	GRCh37
NC_000017.9:g.71024248G>C	NCBI36
NG_013041.1:g.5045G>C
NG_033152.1:g.4012C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.12G>C MANE Select	ENSP00000327487.6:p.Glu4Asp
ENST00000434205.8:c.-83+186G>C	ENSP00000406559.4:n.-83+186G>C
ENST00000545228.3:c.12G>C	ENSP00000438169.3:p.Glu4Asp
ENST00000580013.6:n.21G>C
ENST00000583818.2:c.12G>C	ENSP00000461928.2:p.Glu4Asp
ENST00000679370.1:n.444-174G>C
ENST00000679429.1:c.12G>C	ENSP00000505403.1:p.Glu4Asp
ENST00000679782.1:c.12G>C	ENSP00000505995.1:p.Glu4Asp
ENST00000679928.1:c.12G>C	ENSP00000506071.1:p.Glu4Asp
ENST00000680528.1:n.37G>C
ENST00000680999.1:c.12G>C	ENSP00000504984.1:p.Glu4Asp
ENST00000681282.1:c.12G>C	ENSP00000506339.1:p.Glu4Asp
ENST00000333213.10:c.12G>C	ENSP00000327487.6:p.Glu4Asp
ENST00000434205.7:c.-83+186G>C	ENSP00000406559.3:n.-83+186G>C
ENST00000580013.5:n.37G>C
ENST00000583173.5:c.12G>C	ENSP00000463619.1:p.Glu4Asp
ENST00000583454.1:n.47G>C
NM_207346.2:c.12G>C	NP_997229.2:p.Glu4Asp
XM_005257229.2:c.12G>C	XP_005257286.1:p.Glu4Asp
XM_006721821.2:c.-247-174G>C	XP_006721884.1:n.-247-174G>C
XM_011524616.1:c.12G>C	XP_011522918.1:p.Glu4Asp
XM_011524617.1:c.12G>C	XP_011522919.1:p.Glu4Asp
XM_011524618.1:c.12G>C	XP_011522920.1:p.Glu4Asp
XR_243646.2:n.42G>C
XM_005257229.4:c.12G>C	XP_005257286.1:p.Glu4Asp
XR_243646.4:n.48G>C
NM_207346.3:c.12G>C MANE Select	NP_997229.2:p.Glu4Asp