Canonical Allele Identifier: CA627406684

Gene: TSEN54

Linked Data

• dbSNP Id: rs1201417449
• gnomAD v2: 17-73520700-C-G
• gnomAD v4: 17-75524619-C-G
• MyVariant Identifiers: chr17:g.73520700C>G (hg19) ; chr17:g.75524619C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524619C>G , CM000679.2:g.75524619C>G	GRCh38
NC_000017.10:g.73520700C>G , CM000679.1:g.73520700C>G	GRCh37
NC_000017.9:g.71032295C>G	NCBI36
NG_013041.1:g.13092C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*207C>G MANE Select	ENSP00000327487.6:n.*207C>G
ENST00000434205.8:c.*207C>G	ENSP00000406559.4:n.*207C>G
ENST00000545228.3:c.*287C>G	ENSP00000438169.3:n.*287C>G
ENST00000577197.2:n.986C>G
ENST00000579449.2:n.2528C>G
ENST00000580013.6:n.2932C>G
ENST00000679370.1:n.3310C>G
ENST00000679429.1:c.*1246C>G	ENSP00000505403.1:n.*1246C>G
ENST00000679443.1:n.1857C>G
ENST00000679782.1:c.*487C>G	ENSP00000505995.1:n.*487C>G
ENST00000679919.1:n.2059C>G
ENST00000679928.1:c.*2340C>G	ENSP00000506071.1:n.*2340C>G
ENST00000680999.1:c.*207C>G	ENSP00000504984.1:n.*207C>G
ENST00000681282.1:c.*1975C>G	ENSP00000506339.1:n.*1975C>G
ENST00000333213.10:c.*207C>G	ENSP00000327487.6:n.*207C>G
ENST00000545228.2:c.1065C>G
ENST00000577197.1:n.536C>G
NM_207346.2:c.*207C>G	NP_997229.2:n.*207C>G
XM_005257229.2:c.*287C>G	XP_005257286.1:n.*287C>G
XM_006721821.2:c.*287C>G	XP_006721884.1:n.*287C>G
XM_011524616.1:c.*287C>G	XP_011522918.1:n.*287C>G
XM_011524618.1:c.*207C>G	XP_011522920.1:n.*207C>G
XR_243646.2:n.2020C>G
XM_005257229.4:c.*287C>G	XP_005257286.1:n.*287C>G
XR_243646.4:n.2026C>G
NM_207346.3:c.*207C>G MANE Select	NP_997229.2:n.*207C>G