Canonical Allele Identifier: CA401031179

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520389T>C (hg19) ; chr17:g.75524308T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524308T>C , CM000679.2:g.75524308T>C	GRCh38
NC_000017.10:g.73520389T>C , CM000679.1:g.73520389T>C	GRCh37
NC_000017.9:g.71031984T>C	NCBI36
NG_013041.1:g.12781T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1477T>C MANE Select	ENSP00000327487.6:p.Tyr493His
ENST00000434205.8:c.1174T>C	ENSP00000406559.4:p.Tyr392His
ENST00000545228.3:c.1665T>C	ENSP00000438169.3:p.Leu555=
ENST00000577197.2:n.675T>C
ENST00000579449.2:n.2217T>C
ENST00000580013.6:n.2621T>C
ENST00000679370.1:n.2999T>C
ENST00000679429.1:c.*935T>C	ENSP00000505403.1:n.*935T>C
ENST00000679443.1:n.1546T>C
ENST00000679782.1:c.*176T>C	ENSP00000505995.1:n.*176T>C
ENST00000679919.1:n.1748T>C
ENST00000679928.1:c.*2029T>C	ENSP00000506071.1:n.*2029T>C
ENST00000680528.1:n.2443T>C
ENST00000680999.1:c.1690T>C	ENSP00000504984.1:p.Tyr564His
ENST00000681282.1:c.*1664T>C	ENSP00000506339.1:n.*1664T>C
ENST00000333213.10:c.1477T>C	ENSP00000327487.6:p.Tyr493His
ENST00000545228.2:c.754T>C
ENST00000577197.1:n.225T>C
ENST00000579449.1:n.674T>C
NM_207346.2:c.1477T>C	NP_997229.2:p.Tyr493His
XM_005257229.2:c.1665T>C	XP_005257286.1:p.Leu555=
XM_006721821.2:c.1362T>C	XP_006721884.1:p.Leu454=
XM_011524616.1:c.1548T>C	XP_011522918.1:p.Leu516=
XM_011524617.1:c.*59T>C	XP_011522919.1:n.*59T>C
XM_011524618.1:c.1360T>C	XP_011522920.1:p.Tyr454His
XR_243646.2:n.1709T>C
XM_005257229.4:c.1665T>C	XP_005257286.1:p.Leu555=
XR_001753015.1:n.87+3A>G
XR_001753016.1:n.88+3A>G
XR_243646.4:n.1715T>C
NM_207346.3:c.1477T>C MANE Select	NP_997229.2:p.Tyr493His