Canonical Allele Identifier: CA401031118

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053475165
• gnomAD v3: 17-75524290-A-G
• gnomAD v4: 17-75524290-A-G
• MyVariant Identifiers: chr17:g.73520371A>G (hg19) ; chr17:g.75524290A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524290A>G , CM000679.2:g.75524290A>G	GRCh38
NC_000017.10:g.73520371A>G , CM000679.1:g.73520371A>G	GRCh37
NC_000017.9:g.71031966A>G	NCBI36
NG_013041.1:g.12763A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1459A>G MANE Select	ENSP00000327487.6:p.Ser487Gly
ENST00000434205.8:c.1156A>G	ENSP00000406559.4:p.Ser386Gly
ENST00000545228.3:c.1647A>G	ENSP00000438169.3:p.Ala549=
ENST00000577197.2:n.657A>G
ENST00000579449.2:n.2199A>G
ENST00000580013.6:n.2603A>G
ENST00000679370.1:n.2981A>G
ENST00000679429.1:c.*917A>G	ENSP00000505403.1:n.*917A>G
ENST00000679443.1:n.1528A>G
ENST00000679782.1:c.*158A>G	ENSP00000505995.1:n.*158A>G
ENST00000679919.1:n.1730A>G
ENST00000679928.1:c.*2011A>G	ENSP00000506071.1:n.*2011A>G
ENST00000680528.1:n.2425A>G
ENST00000680999.1:c.1672A>G	ENSP00000504984.1:p.Ser558Gly
ENST00000681282.1:c.*1646A>G	ENSP00000506339.1:n.*1646A>G
ENST00000333213.10:c.1459A>G	ENSP00000327487.6:p.Ser487Gly
ENST00000545228.2:c.736A>G
ENST00000577197.1:n.207A>G
ENST00000579449.1:n.656A>G
NM_207346.2:c.1459A>G	NP_997229.2:p.Ser487Gly
XM_005257229.2:c.1647A>G	XP_005257286.1:p.Ala549=
XM_006721821.2:c.1344A>G	XP_006721884.1:p.Ala448=
XM_011524616.1:c.1530A>G	XP_011522918.1:p.Ala510=
XM_011524617.1:c.*41A>G	XP_011522919.1:n.*41A>G
XM_011524618.1:c.1342A>G	XP_011522920.1:p.Ser448Gly
XR_243646.2:n.1691A>G
XM_005257229.4:c.1647A>G	XP_005257286.1:p.Ala549=
XR_001753015.1:n.87+21T>C
XR_001753016.1:n.88+21T>C
XR_243646.4:n.1697A>G
NM_207346.3:c.1459A>G MANE Select	NP_997229.2:p.Ser487Gly