Canonical Allele Identifier: CA401028597

Gene: TSEN54

Linked Data

• dbSNP Id: rs1290172987
• gnomAD v2: 17-73517834-G-C
• gnomAD v4: 17-75521753-G-C
• MyVariant Identifiers: chr17:g.73517834G>C (hg19) ; chr17:g.75521753G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521753G>C , CM000679.2:g.75521753G>C	GRCh38
NC_000017.10:g.73517834G>C , CM000679.1:g.73517834G>C	GRCh37
NC_000017.9:g.71029429G>C	NCBI36
NG_013041.1:g.10226G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.672G>C MANE Select	ENSP00000327487.6:p.Lys224Asn
ENST00000434205.8:c.369G>C	ENSP00000406559.4:p.Lys123Asn
ENST00000545228.3:c.672G>C	ENSP00000438169.3:p.Lys224Asn
ENST00000579449.2:n.471G>C
ENST00000580013.6:n.875G>C
ENST00000583818.2:c.726G>C	ENSP00000461928.2:n.726G>C
ENST00000679370.1:n.1253G>C
ENST00000679429.1:c.*130G>C	ENSP00000505403.1:n.*130G>C
ENST00000679443.1:n.741G>C
ENST00000679782.1:c.672G>C	ENSP00000505995.1:p.Lys224Asn
ENST00000679919.1:n.741G>C
ENST00000679928.1:c.*283G>C	ENSP00000506071.1:n.*283G>C
ENST00000680528.1:n.697G>C
ENST00000680999.1:c.672G>C	ENSP00000504984.1:p.Lys224Asn
ENST00000681282.1:c.701G>C	ENSP00000506339.1:p.Arg234Thr
ENST00000333213.10:c.672G>C	ENSP00000327487.6:p.Lys224Asn
ENST00000578415.1:c.632G>C
ENST00000583173.5:c.458+243G>C	ENSP00000463619.1:n.458+243G>C
ENST00000583818.1:c.621G>C	ENSP00000461928.1:n.621G>C
NM_207346.2:c.672G>C	NP_997229.2:p.Lys224Asn
XM_005257229.2:c.672G>C	XP_005257286.1:p.Lys224Asn
XM_006721821.2:c.369G>C	XP_006721884.1:p.Lys123Asn
XM_011524616.1:c.672G>C	XP_011522918.1:p.Lys224Asn
XM_011524617.1:c.672G>C	XP_011522919.1:p.Lys224Asn
XM_011524618.1:c.672G>C	XP_011522920.1:p.Lys224Asn
XR_243646.2:n.702G>C
XM_005257229.4:c.672G>C	XP_005257286.1:p.Lys224Asn
XR_243646.4:n.708G>C
NM_207346.3:c.672G>C MANE Select	NP_997229.2:p.Lys224Asn