Canonical Allele Identifier: CA2576388786

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516547-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516547C>T , CM000679.2:g.75516547C>T	GRCh38
NC_000017.10:g.73512628C>T , CM000679.1:g.73512628C>T	GRCh37
NC_000017.9:g.71024223C>T	NCBI36
NG_013041.1:g.5020C>T
NG_033152.1:g.4037G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.-14C>T MANE Select	ENSP00000327487.6:n.-14C>T
ENST00000434205.8:c.-83+161C>T	ENSP00000406559.4:n.-83+161C>T
ENST00000679370.1:n.443+161C>T
ENST00000679429.1:c.-14C>T	ENSP00000505403.1:n.-14C>T
ENST00000679928.1:c.-14C>T	ENSP00000506071.1:n.-14C>T
ENST00000680528.1:n.12C>T
ENST00000681282.1:c.-14C>T	ENSP00000506339.1:n.-14C>T
ENST00000333213.10:c.-14C>T	ENSP00000327487.6:n.-14C>T
ENST00000434205.7:c.-83+161C>T	ENSP00000406559.3:n.-83+161C>T
ENST00000580013.5:n.12C>T
ENST00000583454.1:n.22C>T
NM_207346.2:c.-14C>T	NP_997229.2:n.-14C>T
XM_005257229.2:c.-14C>T	XP_005257286.1:n.-14C>T
XM_006721821.2:c.-248+161C>T	XP_006721884.1:n.-248+161C>T
XM_011524616.1:c.-14C>T	XP_011522918.1:n.-14C>T
XM_011524617.1:c.-14C>T	XP_011522919.1:n.-14C>T
XM_011524618.1:c.-14C>T	XP_011522920.1:n.-14C>T
XR_243646.2:n.17C>T
XM_005257229.4:c.-14C>T	XP_005257286.1:n.-14C>T
XR_243646.4:n.23C>T
NM_207346.3:c.-14C>T MANE Select	NP_997229.2:n.-14C>T