Canonical Allele Identifier: CA501819328

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520367C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524286C>G , CM000679.2:g.75524286C>G	GRCh38
NC_000017.10:g.73520367C>G , CM000679.1:g.73520367C>G	GRCh37
NC_000017.9:g.71031962C>G	NCBI36
NG_013041.1:g.12759C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1455C>G MANE Select	ENSP00000327487.6:p.Leu485=
ENST00000434205.8:c.1152C>G	ENSP00000406559.4:p.Leu384=
ENST00000545228.3:c.1643C>G	ENSP00000438169.3:p.Ser548Cys
ENST00000577197.2:n.653C>G
ENST00000579449.2:n.2195C>G
ENST00000580013.6:n.2599C>G
ENST00000679370.1:n.2977C>G
ENST00000679429.1:c.*913C>G	ENSP00000505403.1:n.*913C>G
ENST00000679443.1:n.1524C>G
ENST00000679782.1:c.*154C>G	ENSP00000505995.1:n.*154C>G
ENST00000679919.1:n.1726C>G
ENST00000679928.1:c.*2007C>G	ENSP00000506071.1:n.*2007C>G
ENST00000680528.1:n.2421C>G
ENST00000680999.1:c.1668C>G	ENSP00000504984.1:p.Leu556=
ENST00000681282.1:c.*1642C>G	ENSP00000506339.1:n.*1642C>G
ENST00000333213.10:c.1455C>G	ENSP00000327487.6:p.Leu485=
ENST00000545228.2:c.732C>G
ENST00000577197.1:n.203C>G
ENST00000579449.1:n.652C>G
NM_207346.2:c.1455C>G	NP_997229.2:p.Leu485=
XM_005257229.2:c.1643C>G	XP_005257286.1:p.Ser548Cys
XM_006721821.2:c.1340C>G	XP_006721884.1:p.Ser447Cys
XM_011524616.1:c.1526C>G	XP_011522918.1:p.Ser509Cys
XM_011524617.1:c.*37C>G	XP_011522919.1:n.*37C>G
XM_011524618.1:c.1338C>G	XP_011522920.1:p.Leu446=
XR_243646.2:n.1687C>G
XM_005257229.4:c.1643C>G	XP_005257286.1:p.Ser548Cys
XR_001753015.1:n.87+25G>C
XR_001753016.1:n.88+25G>C
XR_243646.4:n.1693C>G
NM_207346.3:c.1455C>G MANE Select	NP_997229.2:p.Leu485=