Canonical Allele Identifier: CA401027008

Gene: TSEN54

Linked Data

• dbSNP Id: rs772013549
• gnomAD v2: 17-73512876-C-G
• gnomAD v3: 17-75516795-C-G
• gnomAD v4: 17-75516795-C-G
• MyVariant Identifiers: chr17:g.73512876C>G (hg19) ; chr17:g.75516795C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516795C>G , CM000679.2:g.75516795C>G	GRCh38
NC_000017.10:g.73512876C>G , CM000679.1:g.73512876C>G	GRCh37
NC_000017.9:g.71024471C>G	NCBI36
NG_013041.1:g.5268C>G
NG_033152.1:g.3789G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.106C>G MANE Select	ENSP00000327487.6:p.Arg36Gly
ENST00000434205.8:c.-82-214C>G	ENSP00000406559.4:n.-82-214C>G
ENST00000545228.3:c.106C>G	ENSP00000438169.3:p.Arg36Gly
ENST00000579449.2:n.20+179C>G
ENST00000580013.6:n.115C>G
ENST00000583818.2:c.106C>G	ENSP00000461928.2:p.Arg36Gly
ENST00000679370.1:n.493C>G
ENST00000679429.1:c.106C>G	ENSP00000505403.1:p.Arg36Gly
ENST00000679782.1:c.106C>G	ENSP00000505995.1:p.Arg36Gly
ENST00000679928.1:c.106C>G	ENSP00000506071.1:p.Arg36Gly
ENST00000680528.1:n.131C>G
ENST00000680999.1:c.106C>G	ENSP00000504984.1:p.Arg36Gly
ENST00000681282.1:c.106C>G	ENSP00000506339.1:p.Arg36Gly
ENST00000333213.10:c.106C>G	ENSP00000327487.6:p.Arg36Gly
ENST00000434205.7:c.-82-214C>G	ENSP00000406559.3:n.-82-214C>G
ENST00000580013.5:n.131C>G
ENST00000583173.5:c.56+179C>G	ENSP00000463619.1:n.56+179C>G
ENST00000583454.1:n.141C>G
ENST00000583818.1:c.1C>G	ENSP00000461928.1:p.Arg1Gly
NM_207346.2:c.106C>G	NP_997229.2:p.Arg36Gly
XM_005257229.2:c.106C>G	XP_005257286.1:p.Arg36Gly
XM_006721821.2:c.-198C>G	XP_006721884.1:n.-198C>G
XM_011524616.1:c.106C>G	XP_011522918.1:p.Arg36Gly
XM_011524617.1:c.106C>G	XP_011522919.1:p.Arg36Gly
XM_011524618.1:c.106C>G	XP_011522920.1:p.Arg36Gly
XR_243646.2:n.136C>G
XM_005257229.4:c.106C>G	XP_005257286.1:p.Arg36Gly
XR_243646.4:n.142C>G
NM_207346.3:c.106C>G MANE Select	NP_997229.2:p.Arg36Gly