Canonical Allele Identifier: CA501819506

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524340-C-T
• MyVariant Identifiers: chr17:g.73520421C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524340C>T , CM000679.2:g.75524340C>T	GRCh38
NC_000017.10:g.73520421C>T , CM000679.1:g.73520421C>T	GRCh37
NC_000017.9:g.71032016C>T	NCBI36
NG_013041.1:g.12813C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1509C>T MANE Select	ENSP00000327487.6:p.Ala503=
ENST00000434205.8:c.1206C>T	ENSP00000406559.4:p.Ala402=
ENST00000545228.3:c.*8C>T	ENSP00000438169.3:n.*8C>T
ENST00000577197.2:n.707C>T
ENST00000579449.2:n.2249C>T
ENST00000580013.6:n.2653C>T
ENST00000679370.1:n.3031C>T
ENST00000679429.1:c.*967C>T	ENSP00000505403.1:n.*967C>T
ENST00000679443.1:n.1578C>T
ENST00000679782.1:c.*208C>T	ENSP00000505995.1:n.*208C>T
ENST00000679919.1:n.1780C>T
ENST00000679928.1:c.*2061C>T	ENSP00000506071.1:n.*2061C>T
ENST00000680528.1:n.2475C>T
ENST00000680999.1:c.1722C>T	ENSP00000504984.1:p.Ala574=
ENST00000681282.1:c.*1696C>T	ENSP00000506339.1:n.*1696C>T
ENST00000333213.10:c.1509C>T	ENSP00000327487.6:p.Ala503=
ENST00000545228.2:c.786C>T
ENST00000577197.1:n.257C>T
ENST00000579449.1:n.706C>T
NM_207346.2:c.1509C>T	NP_997229.2:p.Ala503=
XM_005257229.2:c.*8C>T	XP_005257286.1:n.*8C>T
XM_006721821.2:c.*8C>T	XP_006721884.1:n.*8C>T
XM_011524616.1:c.*8C>T	XP_011522918.1:n.*8C>T
XM_011524617.1:c.*91C>T	XP_011522919.1:n.*91C>T
XM_011524618.1:c.1392C>T	XP_011522920.1:p.Ala464=
XR_243646.2:n.1741C>T
XM_005257229.4:c.*8C>T	XP_005257286.1:n.*8C>T
XR_001753015.1:n.58G>A
XR_001753016.1:n.59G>A
XR_243646.4:n.1747C>T
NM_207346.3:c.1509C>T MANE Select	NP_997229.2:p.Ala503=