Canonical Allele Identifier: CA8764312

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 284699
• ClinVar RCV Id: RCV000267986
• dbSNP Id: rs201125812
• ExAC: 17:73518111 G / T
• gnomAD v2: 17-73518111-G-T
• gnomAD v3: 17-75522030-G-T
• gnomAD v4: 17-75522030-G-T
• COSMIC: COSM3672575
• MyVariant Identifiers: chr17:g.73518111G>T (hg19) ; chr17:g.75522030G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522030G>T , CM000679.2:g.75522030G>T	GRCh38
NC_000017.10:g.73518111G>T , CM000679.1:g.73518111G>T	GRCh37
NC_000017.9:g.71029706G>T	NCBI36
NG_013041.1:g.10503G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.949G>T MANE Select	ENSP00000327487.6:p.Ala317Ser
ENST00000434205.8:c.646G>T	ENSP00000406559.4:p.Ala216Ser
ENST00000545228.3:c.949G>T	ENSP00000438169.3:p.Ala317Ser
ENST00000579449.2:n.748G>T
ENST00000580013.6:n.1152G>T
ENST00000679370.1:n.1530G>T
ENST00000679429.1:c.*407G>T	ENSP00000505403.1:n.*407G>T
ENST00000679443.1:n.1018G>T
ENST00000679782.1:c.949G>T	ENSP00000505995.1:p.Ala317Ser
ENST00000679919.1:n.1018G>T
ENST00000679928.1:c.*560G>T	ENSP00000506071.1:n.*560G>T
ENST00000680528.1:n.974G>T
ENST00000680999.1:c.949G>T	ENSP00000504984.1:p.Ala317Ser
ENST00000681282.1:c.*195G>T	ENSP00000506339.1:n.*195G>T
ENST00000333213.10:c.949G>T	ENSP00000327487.6:p.Ala317Ser
ENST00000545228.2:c.38G>T
ENST00000578415.1:c.909G>T
ENST00000583173.5:c.482G>T	ENSP00000463619.1:p.Arg161Leu
NM_207346.2:c.949G>T	NP_997229.2:p.Ala317Ser
XM_005257229.2:c.949G>T	XP_005257286.1:p.Ala317Ser
XM_006721821.2:c.646G>T	XP_006721884.1:p.Ala216Ser
XM_011524616.1:c.949G>T	XP_011522918.1:p.Ala317Ser
XM_011524617.1:c.949G>T	XP_011522919.1:p.Ala317Ser
XM_011524618.1:c.949G>T	XP_011522920.1:p.Ala317Ser
XR_243646.2:n.979G>T
XM_005257229.4:c.949G>T	XP_005257286.1:p.Ala317Ser
XR_243646.4:n.985G>T
NM_207346.3:c.949G>T MANE Select	NP_997229.2:p.Ala317Ser