Canonical Allele Identifier: CA2639835572

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516557-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516557C>T , CM000679.2:g.75516557C>T	GRCh38
NC_000017.10:g.73512638C>T , CM000679.1:g.73512638C>T	GRCh37
NC_000017.9:g.71024233C>T	NCBI36
NG_013041.1:g.5030C>T
NG_033152.1:g.4027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.-4C>T MANE Select	ENSP00000327487.6:n.-4C>T
ENST00000434205.8:c.-83+171C>T	ENSP00000406559.4:n.-83+171C>T
ENST00000545228.3:c.-4C>T	ENSP00000438169.3:n.-4C>T
ENST00000580013.6:n.6C>T
ENST00000679370.1:n.443+171C>T
ENST00000679429.1:c.-4C>T	ENSP00000505403.1:n.-4C>T
ENST00000679782.1:c.-4C>T	ENSP00000505995.1:n.-4C>T
ENST00000679928.1:c.-4C>T	ENSP00000506071.1:n.-4C>T
ENST00000680528.1:n.22C>T
ENST00000680999.1:c.-4C>T	ENSP00000504984.1:n.-4C>T
ENST00000681282.1:c.-4C>T	ENSP00000506339.1:n.-4C>T
ENST00000333213.10:c.-4C>T	ENSP00000327487.6:n.-4C>T
ENST00000434205.7:c.-83+171C>T	ENSP00000406559.3:n.-83+171C>T
ENST00000580013.5:n.22C>T
ENST00000583454.1:n.32C>T
NM_207346.2:c.-4C>T	NP_997229.2:n.-4C>T
XM_005257229.2:c.-4C>T	XP_005257286.1:n.-4C>T
XM_006721821.2:c.-248+171C>T	XP_006721884.1:n.-248+171C>T
XM_011524616.1:c.-4C>T	XP_011522918.1:n.-4C>T
XM_011524617.1:c.-4C>T	XP_011522919.1:n.-4C>T
XM_011524618.1:c.-4C>T	XP_011522920.1:n.-4C>T
XR_243646.2:n.27C>T
XM_005257229.4:c.-4C>T	XP_005257286.1:n.-4C>T
XR_243646.4:n.33C>T
NM_207346.3:c.-4C>T MANE Select	NP_997229.2:n.-4C>T