Canonical Allele Identifier: CA401029824

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75522180-A-G
• MyVariant Identifiers: chr17:g.73518261A>G (hg19) ; chr17:g.75522180A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522180A>G , CM000679.2:g.75522180A>G	GRCh38
NC_000017.10:g.73518261A>G , CM000679.1:g.73518261A>G	GRCh37
NC_000017.9:g.71029856A>G	NCBI36
NG_013041.1:g.10653A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1099A>G MANE Select	ENSP00000327487.6:p.Asn367Asp
ENST00000434205.8:c.796A>G	ENSP00000406559.4:p.Asn266Asp
ENST00000545228.3:c.1099A>G	ENSP00000438169.3:p.Asn367Asp
ENST00000579449.2:n.898A>G
ENST00000580013.6:n.1302A>G
ENST00000679370.1:n.1680A>G
ENST00000679429.1:c.*557A>G	ENSP00000505403.1:n.*557A>G
ENST00000679443.1:n.1168A>G
ENST00000679782.1:c.1099A>G	ENSP00000505995.1:p.Asn367Asp
ENST00000679919.1:n.1168A>G
ENST00000679928.1:c.*710A>G	ENSP00000506071.1:n.*710A>G
ENST00000680528.1:n.1124A>G
ENST00000680999.1:c.1099A>G	ENSP00000504984.1:p.Asn367Asp
ENST00000681282.1:c.*345A>G	ENSP00000506339.1:n.*345A>G
ENST00000333213.10:c.1099A>G	ENSP00000327487.6:p.Asn367Asp
ENST00000545228.2:c.188A>G
ENST00000583173.5:c.632A>G	ENSP00000463619.1:n.632A>G
NM_207346.2:c.1099A>G	NP_997229.2:p.Asn367Asp
XM_005257229.2:c.1099A>G	XP_005257286.1:p.Asn367Asp
XM_006721821.2:c.796A>G	XP_006721884.1:p.Asn266Asp
XM_011524616.1:c.1099A>G	XP_011522918.1:p.Asn367Asp
XM_011524617.1:c.1099A>G	XP_011522919.1:p.Asn367Asp
XM_011524618.1:c.1099A>G	XP_011522920.1:p.Asn367Asp
XR_243646.2:n.1129A>G
XM_005257229.4:c.1099A>G	XP_005257286.1:p.Asn367Asp
XR_243646.4:n.1135A>G
NM_207346.3:c.1099A>G MANE Select	NP_997229.2:p.Asn367Asp