Canonical Allele Identifier: CA401026862

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516598-C-A
• MyVariant Identifiers: chr17:g.73512679C>A (hg19) ; chr17:g.75516598C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516598C>A , CM000679.2:g.75516598C>A	GRCh38
NC_000017.10:g.73512679C>A , CM000679.1:g.73512679C>A	GRCh37
NC_000017.9:g.71024274C>A	NCBI36
NG_013041.1:g.5071C>A
NG_033152.1:g.3986G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.38C>A MANE Select	ENSP00000327487.6:p.Pro13His
ENST00000434205.8:c.-83+212C>A	ENSP00000406559.4:n.-83+212C>A
ENST00000545228.3:c.38C>A	ENSP00000438169.3:p.Pro13His
ENST00000579449.2:n.2C>A
ENST00000580013.6:n.47C>A
ENST00000583818.2:c.38C>A	ENSP00000461928.2:p.Pro13His
ENST00000679370.1:n.444-148C>A
ENST00000679429.1:c.38C>A	ENSP00000505403.1:p.Pro13His
ENST00000679782.1:c.38C>A	ENSP00000505995.1:p.Pro13His
ENST00000679928.1:c.38C>A	ENSP00000506071.1:p.Pro13His
ENST00000680528.1:n.63C>A
ENST00000680999.1:c.38C>A	ENSP00000504984.1:p.Pro13His
ENST00000681282.1:c.38C>A	ENSP00000506339.1:p.Pro13His
ENST00000333213.10:c.38C>A	ENSP00000327487.6:p.Pro13His
ENST00000434205.7:c.-83+212C>A	ENSP00000406559.3:n.-83+212C>A
ENST00000580013.5:n.63C>A
ENST00000583173.5:c.38C>A	ENSP00000463619.1:p.Pro13His
ENST00000583454.1:n.73C>A
NM_207346.2:c.38C>A	NP_997229.2:p.Pro13His
XM_005257229.2:c.38C>A	XP_005257286.1:p.Pro13His
XM_006721821.2:c.-247-148C>A	XP_006721884.1:n.-247-148C>A
XM_011524616.1:c.38C>A	XP_011522918.1:p.Pro13His
XM_011524617.1:c.38C>A	XP_011522919.1:p.Pro13His
XM_011524618.1:c.38C>A	XP_011522920.1:p.Pro13His
XR_243646.2:n.68C>A
XM_005257229.4:c.38C>A	XP_005257286.1:p.Pro13His
XR_243646.4:n.74C>A
NM_207346.3:c.38C>A MANE Select	NP_997229.2:p.Pro13His