Canonical Allele Identifier: CA401029836

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75522186-G-C
• MyVariant Identifiers: chr17:g.73518267G>C (hg19) ; chr17:g.75522186G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522186G>C , CM000679.2:g.75522186G>C	GRCh38
NC_000017.10:g.73518267G>C , CM000679.1:g.73518267G>C	GRCh37
NC_000017.9:g.71029862G>C	NCBI36
NG_013041.1:g.10659G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1105G>C MANE Select	ENSP00000327487.6:p.Asp369His
ENST00000434205.8:c.802G>C	ENSP00000406559.4:p.Asp268His
ENST00000545228.3:c.1105G>C	ENSP00000438169.3:p.Asp369His
ENST00000579449.2:n.904G>C
ENST00000580013.6:n.1308G>C
ENST00000679370.1:n.1686G>C
ENST00000679429.1:c.*563G>C	ENSP00000505403.1:n.*563G>C
ENST00000679443.1:n.1174G>C
ENST00000679782.1:c.1105G>C	ENSP00000505995.1:p.Asp369His
ENST00000679919.1:n.1174G>C
ENST00000679928.1:c.*716G>C	ENSP00000506071.1:n.*716G>C
ENST00000680528.1:n.1130G>C
ENST00000680999.1:c.1105G>C	ENSP00000504984.1:p.Asp369His
ENST00000681282.1:c.*351G>C	ENSP00000506339.1:n.*351G>C
ENST00000333213.10:c.1105G>C	ENSP00000327487.6:p.Asp369His
ENST00000545228.2:c.194G>C
ENST00000583173.5:c.638G>C	ENSP00000463619.1:n.638G>C
NM_207346.2:c.1105G>C	NP_997229.2:p.Asp369His
XM_005257229.2:c.1105G>C	XP_005257286.1:p.Asp369His
XM_006721821.2:c.802G>C	XP_006721884.1:p.Asp268His
XM_011524616.1:c.1105G>C	XP_011522918.1:p.Asp369His
XM_011524617.1:c.1105G>C	XP_011522919.1:p.Asp369His
XM_011524618.1:c.1105G>C	XP_011522920.1:p.Asp369His
XR_243646.2:n.1135G>C
XM_005257229.4:c.1105G>C	XP_005257286.1:p.Asp369His
XR_243646.4:n.1141G>C
NM_207346.3:c.1105G>C MANE Select	NP_997229.2:p.Asp369His