Canonical Allele Identifier: CA294077094

Gene: TSEN54

Linked Data

• dbSNP Id: rs892004180
• gnomAD v3: 17-75518848-C-T
• gnomAD v4: 17-75518848-C-T
• MyVariant Identifiers: chr17:g.73514929C>T (hg19) ; chr17:g.75518848C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75518848C>T , CM000679.2:g.75518848C>T	GRCh38
NC_000017.10:g.73514929C>T , CM000679.1:g.73514929C>T	GRCh37
NC_000017.9:g.71026524C>T	NCBI36
NG_013041.1:g.7321C>T
NG_033152.1:g.1736G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.469-147C>T MANE Select	ENSP00000327487.6:n.469-147C>T
ENST00000434205.8:c.166-147C>T	ENSP00000406559.4:n.166-147C>T
ENST00000545228.3:c.469-147C>T	ENSP00000438169.3:n.469-147C>T
ENST00000579449.2:n.268-147C>T
ENST00000580013.6:n.478-147C>T
ENST00000583818.2:c.469-147C>T	ENSP00000461928.2:n.469-147C>T
ENST00000679370.1:n.856-147C>T
ENST00000679429.1:c.469-155C>T	ENSP00000505403.1:n.469-155C>T
ENST00000679443.1:n.344-147C>T
ENST00000679782.1:c.469-147C>T	ENSP00000505995.1:n.469-147C>T
ENST00000679919.1:n.344-147C>T
ENST00000679928.1:c.469-147C>T	ENSP00000506071.1:n.469-147C>T
ENST00000680528.1:n.494-147C>T
ENST00000680999.1:c.469-147C>T	ENSP00000504984.1:n.469-147C>T
ENST00000681282.1:c.469-147C>T	ENSP00000506339.1:n.469-147C>T
ENST00000333213.10:c.469-147C>T	ENSP00000327487.6:n.469-147C>T
ENST00000434205.7:c.166-147C>T	ENSP00000406559.3:n.166-147C>T
ENST00000578415.1:c.429-147C>T
ENST00000580013.5:n.494-155C>T
ENST00000583173.5:c.304-147C>T	ENSP00000463619.1:n.304-147C>T
ENST00000583818.1:c.364-147C>T	ENSP00000461928.1:n.364-147C>T
NM_207346.2:c.469-147C>T	NP_997229.2:n.469-147C>T
XM_005257229.2:c.469-147C>T	XP_005257286.1:n.469-147C>T
XM_006721821.2:c.166-147C>T	XP_006721884.1:n.166-147C>T
XM_011524616.1:c.469-147C>T	XP_011522918.1:n.469-147C>T
XM_011524617.1:c.469-147C>T	XP_011522919.1:n.469-147C>T
XM_011524618.1:c.469-147C>T	XP_011522920.1:n.469-147C>T
XR_243646.2:n.499-147C>T
XM_005257229.4:c.469-147C>T	XP_005257286.1:n.469-147C>T
XR_243646.4:n.505-147C>T
NM_207346.3:c.469-147C>T MANE Select	NP_997229.2:n.469-147C>T