Canonical Allele Identifier: CA401028458

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 1215355
• ClinVar RCV Id: RCV001585237
• dbSNP Id: rs2147012981
• MyVariant Identifiers: chr17:g.73517798G>T (hg19) ; chr17:g.75521717G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521717G>T , CM000679.2:g.75521717G>T	GRCh38
NC_000017.10:g.73517798G>T , CM000679.1:g.73517798G>T	GRCh37
NC_000017.9:g.71029393G>T	NCBI36
NG_013041.1:g.10190G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.636G>T MANE Select	ENSP00000327487.6:p.Lys212Asn
ENST00000434205.8:c.333G>T	ENSP00000406559.4:p.Lys111Asn
ENST00000545228.3:c.636G>T	ENSP00000438169.3:p.Lys212Asn
ENST00000579449.2:n.435G>T
ENST00000580013.6:n.839G>T
ENST00000583818.2:c.690G>T	ENSP00000461928.2:n.690G>T
ENST00000679370.1:n.1217G>T
ENST00000679429.1:c.*94G>T	ENSP00000505403.1:n.*94G>T
ENST00000679443.1:n.705G>T
ENST00000679782.1:c.636G>T	ENSP00000505995.1:p.Lys212Asn
ENST00000679919.1:n.705G>T
ENST00000679928.1:c.*247G>T	ENSP00000506071.1:n.*247G>T
ENST00000680528.1:n.661G>T
ENST00000680999.1:c.636G>T	ENSP00000504984.1:p.Lys212Asn
ENST00000681282.1:c.665G>T	ENSP00000506339.1:p.Arg222Ile
ENST00000333213.10:c.636G>T	ENSP00000327487.6:p.Lys212Asn
ENST00000578415.1:c.596G>T
ENST00000583173.5:c.458+207G>T	ENSP00000463619.1:n.458+207G>T
ENST00000583818.1:c.585G>T	ENSP00000461928.1:n.585G>T
NM_207346.2:c.636G>T	NP_997229.2:p.Lys212Asn
XM_005257229.2:c.636G>T	XP_005257286.1:p.Lys212Asn
XM_006721821.2:c.333G>T	XP_006721884.1:p.Lys111Asn
XM_011524616.1:c.636G>T	XP_011522918.1:p.Lys212Asn
XM_011524617.1:c.636G>T	XP_011522919.1:p.Lys212Asn
XM_011524618.1:c.636G>T	XP_011522920.1:p.Lys212Asn
XR_243646.2:n.666G>T
XM_005257229.4:c.636G>T	XP_005257286.1:p.Lys212Asn
XR_243646.4:n.672G>T
NM_207346.3:c.636G>T MANE Select	NP_997229.2:p.Lys212Asn