Canonical Allele Identifier: CA2739561816

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524458C>A , CM000679.2:g.75524458C>A	GRCh38
NC_000017.10:g.73520539C>A , CM000679.1:g.73520539C>A	GRCh37
NC_000017.9:g.71032134C>A	NCBI36
NG_013041.1:g.12931C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*46C>A MANE Select	ENSP00000327487.6:n.*46C>A
ENST00000434205.8:c.*46C>A	ENSP00000406559.4:n.*46C>A
ENST00000545228.3:c.*126C>A	ENSP00000438169.3:n.*126C>A
ENST00000577197.2:n.825C>A
ENST00000579449.2:n.2367C>A
ENST00000580013.6:n.2771C>A
ENST00000679370.1:n.3149C>A
ENST00000679429.1:c.*1085C>A	ENSP00000505403.1:n.*1085C>A
ENST00000679443.1:n.1696C>A
ENST00000679782.1:c.*326C>A	ENSP00000505995.1:n.*326C>A
ENST00000679919.1:n.1898C>A
ENST00000679928.1:c.*2179C>A	ENSP00000506071.1:n.*2179C>A
ENST00000680999.1:c.*46C>A	ENSP00000504984.1:n.*46C>A
ENST00000681282.1:c.*1814C>A	ENSP00000506339.1:n.*1814C>A
ENST00000333213.10:c.*46C>A	ENSP00000327487.6:n.*46C>A
ENST00000545228.2:c.904C>A
ENST00000577197.1:n.375C>A
NM_207346.2:c.*46C>A	NP_997229.2:n.*46C>A
XM_005257229.2:c.*126C>A	XP_005257286.1:n.*126C>A
XM_006721821.2:c.*126C>A	XP_006721884.1:n.*126C>A
XM_011524616.1:c.*126C>A	XP_011522918.1:n.*126C>A
XM_011524618.1:c.*46C>A	XP_011522920.1:n.*46C>A
XR_243646.2:n.1859C>A
XM_005257229.4:c.*126C>A	XP_005257286.1:n.*126C>A
XR_243646.4:n.1865C>A
NM_207346.3:c.*46C>A MANE Select	NP_997229.2:n.*46C>A