Canonical Allele Identifier: CA2639835573

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516558-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516558G>C , CM000679.2:g.75516558G>C	GRCh38
NC_000017.10:g.73512639G>C , CM000679.1:g.73512639G>C	GRCh37
NC_000017.9:g.71024234G>C	NCBI36
NG_013041.1:g.5031G>C
NG_033152.1:g.4026C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.-3G>C MANE Select	ENSP00000327487.6:n.-3G>C
ENST00000434205.8:c.-83+172G>C	ENSP00000406559.4:n.-83+172G>C
ENST00000545228.3:c.-3G>C	ENSP00000438169.3:n.-3G>C
ENST00000580013.6:n.7G>C
ENST00000679370.1:n.443+172G>C
ENST00000679429.1:c.-3G>C	ENSP00000505403.1:n.-3G>C
ENST00000679782.1:c.-3G>C	ENSP00000505995.1:n.-3G>C
ENST00000679928.1:c.-3G>C	ENSP00000506071.1:n.-3G>C
ENST00000680528.1:n.23G>C
ENST00000680999.1:c.-3G>C	ENSP00000504984.1:n.-3G>C
ENST00000681282.1:c.-3G>C	ENSP00000506339.1:n.-3G>C
ENST00000333213.10:c.-3G>C	ENSP00000327487.6:n.-3G>C
ENST00000434205.7:c.-83+172G>C	ENSP00000406559.3:n.-83+172G>C
ENST00000580013.5:n.23G>C
ENST00000583454.1:n.33G>C
NM_207346.2:c.-3G>C	NP_997229.2:n.-3G>C
XM_005257229.2:c.-3G>C	XP_005257286.1:n.-3G>C
XM_006721821.2:c.-248+172G>C	XP_006721884.1:n.-248+172G>C
XM_011524616.1:c.-3G>C	XP_011522918.1:n.-3G>C
XM_011524617.1:c.-3G>C	XP_011522919.1:n.-3G>C
XM_011524618.1:c.-3G>C	XP_011522920.1:n.-3G>C
XR_243646.2:n.28G>C
XM_005257229.4:c.-3G>C	XP_005257286.1:n.-3G>C
XR_243646.4:n.34G>C
NM_207346.3:c.-3G>C MANE Select	NP_997229.2:n.-3G>C