Canonical Allele Identifier: CA401031337

Gene: TSEN54

Linked Data

• dbSNP Id: rs1344955759
• gnomAD v3: 17-75524350-C-G
• gnomAD v4: 17-75524350-C-G
• MyVariant Identifiers: chr17:g.73520431C>G (hg19) ; chr17:g.75524350C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524350C>G , CM000679.2:g.75524350C>G	GRCh38
NC_000017.10:g.73520431C>G , CM000679.1:g.73520431C>G	GRCh37
NC_000017.9:g.71032026C>G	NCBI36
NG_013041.1:g.12823C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1519C>G MANE Select	ENSP00000327487.6:p.His507Asp
ENST00000434205.8:c.1216C>G	ENSP00000406559.4:p.His406Asp
ENST00000545228.3:c.*18C>G	ENSP00000438169.3:n.*18C>G
ENST00000577197.2:n.717C>G
ENST00000579449.2:n.2259C>G
ENST00000580013.6:n.2663C>G
ENST00000679370.1:n.3041C>G
ENST00000679429.1:c.*977C>G	ENSP00000505403.1:n.*977C>G
ENST00000679443.1:n.1588C>G
ENST00000679782.1:c.*218C>G	ENSP00000505995.1:n.*218C>G
ENST00000679919.1:n.1790C>G
ENST00000679928.1:c.*2071C>G	ENSP00000506071.1:n.*2071C>G
ENST00000680528.1:n.2485C>G
ENST00000680999.1:c.1732C>G	ENSP00000504984.1:p.His578Asp
ENST00000681282.1:c.*1706C>G	ENSP00000506339.1:n.*1706C>G
ENST00000333213.10:c.1519C>G	ENSP00000327487.6:p.His507Asp
ENST00000545228.2:c.796C>G
ENST00000577197.1:n.267C>G
ENST00000579449.1:n.716C>G
NM_207346.2:c.1519C>G	NP_997229.2:p.His507Asp
XM_005257229.2:c.*18C>G	XP_005257286.1:n.*18C>G
XM_006721821.2:c.*18C>G	XP_006721884.1:n.*18C>G
XM_011524616.1:c.*18C>G	XP_011522918.1:n.*18C>G
XM_011524617.1:c.*101C>G	XP_011522919.1:n.*101C>G
XM_011524618.1:c.1402C>G	XP_011522920.1:p.His468Asp
XR_243646.2:n.1751C>G
XM_005257229.4:c.*18C>G	XP_005257286.1:n.*18C>G
XR_001753015.1:n.48G>C
XR_001753016.1:n.49G>C
XR_243646.4:n.1757C>G
NM_207346.3:c.1519C>G MANE Select	NP_997229.2:p.His507Asp