Canonical Allele Identifier: CA2639835394

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516532-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516532C>G , CM000679.2:g.75516532C>G	GRCh38
NC_000017.10:g.73512613C>G , CM000679.1:g.73512613C>G	GRCh37
NC_000017.9:g.71024208C>G	NCBI36
NG_013041.1:g.5005C>G
NG_033152.1:g.4052G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.-29C>G MANE Select	ENSP00000327487.6:n.-29C>G
ENST00000434205.8:c.-83+146C>G	ENSP00000406559.4:n.-83+146C>G
ENST00000679370.1:n.443+146C>G
ENST00000681282.1:c.-29C>G	ENSP00000506339.1:n.-29C>G
ENST00000333213.10:c.-29C>G	ENSP00000327487.6:n.-29C>G
ENST00000434205.7:c.-83+146C>G	ENSP00000406559.3:n.-83+146C>G
ENST00000583454.1:n.7C>G
NM_207346.2:c.-29C>G	NP_997229.2:n.-29C>G
XM_005257229.2:c.-29C>G	XP_005257286.1:n.-29C>G
XM_006721821.2:c.-248+146C>G	XP_006721884.1:n.-248+146C>G
XM_011524616.1:c.-29C>G	XP_011522918.1:n.-29C>G
XM_011524617.1:c.-29C>G	XP_011522919.1:n.-29C>G
XM_011524618.1:c.-29C>G	XP_011522920.1:n.-29C>G
XR_243646.2:n.2C>G
XM_005257229.4:c.-29C>G	XP_005257286.1:n.-29C>G
XR_243646.4:n.8C>G
NM_207346.3:c.-29C>G MANE Select	NP_997229.2:n.-29C>G