Canonical Allele Identifier: CA401029760

Gene: TSEN54

Linked Data

• dbSNP Id: rs760089379
• gnomAD v4: 17-75522151-C-G
• MyVariant Identifiers: chr17:g.73518232C>G (hg19) ; chr17:g.75522151C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522151C>G , CM000679.2:g.75522151C>G	GRCh38
NC_000017.10:g.73518232C>G , CM000679.1:g.73518232C>G	GRCh37
NC_000017.9:g.71029827C>G	NCBI36
NG_013041.1:g.10624C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1070C>G MANE Select	ENSP00000327487.6:p.Ala357Gly
ENST00000434205.8:c.767C>G	ENSP00000406559.4:p.Ala256Gly
ENST00000545228.3:c.1070C>G	ENSP00000438169.3:p.Ala357Gly
ENST00000579449.2:n.869C>G
ENST00000580013.6:n.1273C>G
ENST00000679370.1:n.1651C>G
ENST00000679429.1:c.*528C>G	ENSP00000505403.1:n.*528C>G
ENST00000679443.1:n.1139C>G
ENST00000679782.1:c.1070C>G	ENSP00000505995.1:p.Ala357Gly
ENST00000679919.1:n.1139C>G
ENST00000679928.1:c.*681C>G	ENSP00000506071.1:n.*681C>G
ENST00000680528.1:n.1095C>G
ENST00000680999.1:c.1070C>G	ENSP00000504984.1:p.Ala357Gly
ENST00000681282.1:c.*316C>G	ENSP00000506339.1:n.*316C>G
ENST00000333213.10:c.1070C>G	ENSP00000327487.6:p.Ala357Gly
ENST00000545228.2:c.159C>G
ENST00000583173.5:c.603C>G	ENSP00000463619.1:n.603C>G
NM_207346.2:c.1070C>G	NP_997229.2:p.Ala357Gly
XM_005257229.2:c.1070C>G	XP_005257286.1:p.Ala357Gly
XM_006721821.2:c.767C>G	XP_006721884.1:p.Ala256Gly
XM_011524616.1:c.1070C>G	XP_011522918.1:p.Ala357Gly
XM_011524617.1:c.1070C>G	XP_011522919.1:p.Ala357Gly
XM_011524618.1:c.1070C>G	XP_011522920.1:p.Ala357Gly
XR_243646.2:n.1100C>G
XM_005257229.4:c.1070C>G	XP_005257286.1:p.Ala357Gly
XR_243646.4:n.1106C>G
NM_207346.3:c.1070C>G MANE Select	NP_997229.2:p.Ala357Gly