Canonical Allele Identifier: CA401031169

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520386T>G (hg19) ; chr17:g.75524305T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524305T>G , CM000679.2:g.75524305T>G	GRCh38
NC_000017.10:g.73520386T>G , CM000679.1:g.73520386T>G	GRCh37
NC_000017.9:g.71031981T>G	NCBI36
NG_013041.1:g.12778T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1474T>G MANE Select	ENSP00000327487.6:p.Ser492Ala
ENST00000434205.8:c.1171T>G	ENSP00000406559.4:p.Ser391Ala
ENST00000545228.3:c.1662T>G	ENSP00000438169.3:p.Cys554Trp
ENST00000577197.2:n.672T>G
ENST00000579449.2:n.2214T>G
ENST00000580013.6:n.2618T>G
ENST00000679370.1:n.2996T>G
ENST00000679429.1:c.*932T>G	ENSP00000505403.1:n.*932T>G
ENST00000679443.1:n.1543T>G
ENST00000679782.1:c.*173T>G	ENSP00000505995.1:n.*173T>G
ENST00000679919.1:n.1745T>G
ENST00000679928.1:c.*2026T>G	ENSP00000506071.1:n.*2026T>G
ENST00000680528.1:n.2440T>G
ENST00000680999.1:c.1687T>G	ENSP00000504984.1:p.Ser563Ala
ENST00000681282.1:c.*1661T>G	ENSP00000506339.1:n.*1661T>G
ENST00000333213.10:c.1474T>G	ENSP00000327487.6:p.Ser492Ala
ENST00000545228.2:c.751T>G
ENST00000577197.1:n.222T>G
ENST00000579449.1:n.671T>G
NM_207346.2:c.1474T>G	NP_997229.2:p.Ser492Ala
XM_005257229.2:c.1662T>G	XP_005257286.1:p.Cys554Trp
XM_006721821.2:c.1359T>G	XP_006721884.1:p.Cys453Trp
XM_011524616.1:c.1545T>G	XP_011522918.1:p.Cys515Trp
XM_011524617.1:c.*56T>G	XP_011522919.1:n.*56T>G
XM_011524618.1:c.1357T>G	XP_011522920.1:p.Ser453Ala
XR_243646.2:n.1706T>G
XM_005257229.4:c.1662T>G	XP_005257286.1:p.Cys554Trp
XR_001753015.1:n.87+6A>C
XR_001753016.1:n.88+6A>C
XR_243646.4:n.1712T>G
NM_207346.3:c.1474T>G MANE Select	NP_997229.2:p.Ser492Ala