Canonical Allele Identifier: CA401031304

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524341-C-G
• MyVariant Identifiers: chr17:g.73520422C>G (hg19) ; chr17:g.75524341C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524341C>G , CM000679.2:g.75524341C>G	GRCh38
NC_000017.10:g.73520422C>G , CM000679.1:g.73520422C>G	GRCh37
NC_000017.9:g.71032017C>G	NCBI36
NG_013041.1:g.12814C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1510C>G MANE Select	ENSP00000327487.6:p.Leu504Val
ENST00000434205.8:c.1207C>G	ENSP00000406559.4:p.Leu403Val
ENST00000545228.3:c.*9C>G	ENSP00000438169.3:n.*9C>G
ENST00000577197.2:n.708C>G
ENST00000579449.2:n.2250C>G
ENST00000580013.6:n.2654C>G
ENST00000679370.1:n.3032C>G
ENST00000679429.1:c.*968C>G	ENSP00000505403.1:n.*968C>G
ENST00000679443.1:n.1579C>G
ENST00000679782.1:c.*209C>G	ENSP00000505995.1:n.*209C>G
ENST00000679919.1:n.1781C>G
ENST00000679928.1:c.*2062C>G	ENSP00000506071.1:n.*2062C>G
ENST00000680528.1:n.2476C>G
ENST00000680999.1:c.1723C>G	ENSP00000504984.1:p.Leu575Val
ENST00000681282.1:c.*1697C>G	ENSP00000506339.1:n.*1697C>G
ENST00000333213.10:c.1510C>G	ENSP00000327487.6:p.Leu504Val
ENST00000545228.2:c.787C>G
ENST00000577197.1:n.258C>G
ENST00000579449.1:n.707C>G
NM_207346.2:c.1510C>G	NP_997229.2:p.Leu504Val
XM_005257229.2:c.*9C>G	XP_005257286.1:n.*9C>G
XM_006721821.2:c.*9C>G	XP_006721884.1:n.*9C>G
XM_011524616.1:c.*9C>G	XP_011522918.1:n.*9C>G
XM_011524617.1:c.*92C>G	XP_011522919.1:n.*92C>G
XM_011524618.1:c.1393C>G	XP_011522920.1:p.Leu465Val
XR_243646.2:n.1742C>G
XM_005257229.4:c.*9C>G	XP_005257286.1:n.*9C>G
XR_001753015.1:n.57G>C
XR_001753016.1:n.58G>C
XR_243646.4:n.1748C>G
NM_207346.3:c.1510C>G MANE Select	NP_997229.2:p.Leu504Val