Canonical Allele Identifier: CA502045546

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2828597
• ClinVar RCV Id: RCV003686031
• gnomAD v4: 17-75516833-G-C
• MyVariant Identifiers: chr17:g.73512914G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516833G>C , CM000679.2:g.75516833G>C	GRCh38
NC_000017.10:g.73512914G>C , CM000679.1:g.73512914G>C	GRCh37
NC_000017.9:g.71024509G>C	NCBI36
NG_013041.1:g.5306G>C
NG_033152.1:g.3751C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.144G>C MANE Select	ENSP00000327487.6:p.Ser48=
ENST00000434205.8:c.-82-176G>C	ENSP00000406559.4:n.-82-176G>C
ENST00000545228.3:c.144G>C	ENSP00000438169.3:p.Ser48=
ENST00000579449.2:n.21-176G>C
ENST00000580013.6:n.153G>C
ENST00000583818.2:c.144G>C	ENSP00000461928.2:p.Ser48=
ENST00000679370.1:n.531G>C
ENST00000679429.1:c.144G>C	ENSP00000505403.1:p.Ser48=
ENST00000679443.1:n.19G>C
ENST00000679782.1:c.144G>C	ENSP00000505995.1:p.Ser48=
ENST00000679919.1:n.19G>C
ENST00000679928.1:c.144G>C	ENSP00000506071.1:p.Ser48=
ENST00000680528.1:n.169G>C
ENST00000680999.1:c.144G>C	ENSP00000504984.1:p.Ser48=
ENST00000681282.1:c.144G>C	ENSP00000506339.1:p.Ser48=
ENST00000333213.10:c.144G>C	ENSP00000327487.6:p.Ser48=
ENST00000434205.7:c.-82-176G>C	ENSP00000406559.3:n.-82-176G>C
ENST00000578415.1:c.22G>C
ENST00000580013.5:n.169G>C
ENST00000583173.5:c.57-176G>C	ENSP00000463619.1:n.57-176G>C
ENST00000583454.1:n.179G>C
ENST00000583818.1:c.39G>C	ENSP00000461928.1:p.Ser13=
NM_207346.2:c.144G>C	NP_997229.2:p.Ser48=
XM_005257229.2:c.144G>C	XP_005257286.1:p.Ser48=
XM_006721821.2:c.-160G>C	XP_006721884.1:n.-160G>C
XM_011524616.1:c.144G>C	XP_011522918.1:p.Ser48=
XM_011524617.1:c.144G>C	XP_011522919.1:p.Ser48=
XM_011524618.1:c.144G>C	XP_011522920.1:p.Ser48=
XR_243646.2:n.174G>C
XM_005257229.4:c.144G>C	XP_005257286.1:p.Ser48=
XR_243646.4:n.180G>C
NM_207346.3:c.144G>C MANE Select	NP_997229.2:p.Ser48=