Canonical Allele Identifier: CA401029838

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75522187-A-C
• MyVariant Identifiers: chr17:g.73518268A>C (hg19) ; chr17:g.75522187A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522187A>C , CM000679.2:g.75522187A>C	GRCh38
NC_000017.10:g.73518268A>C , CM000679.1:g.73518268A>C	GRCh37
NC_000017.9:g.71029863A>C	NCBI36
NG_013041.1:g.10660A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1106A>C MANE Select	ENSP00000327487.6:p.Asp369Ala
ENST00000434205.8:c.803A>C	ENSP00000406559.4:p.Asp268Ala
ENST00000545228.3:c.1106A>C	ENSP00000438169.3:p.Asp369Ala
ENST00000579449.2:n.905A>C
ENST00000580013.6:n.1309A>C
ENST00000679370.1:n.1687A>C
ENST00000679429.1:c.*564A>C	ENSP00000505403.1:n.*564A>C
ENST00000679443.1:n.1175A>C
ENST00000679782.1:c.1106A>C	ENSP00000505995.1:p.Asp369Ala
ENST00000679919.1:n.1175A>C
ENST00000679928.1:c.*717A>C	ENSP00000506071.1:n.*717A>C
ENST00000680528.1:n.1131A>C
ENST00000680999.1:c.1106A>C	ENSP00000504984.1:p.Asp369Ala
ENST00000681282.1:c.*352A>C	ENSP00000506339.1:n.*352A>C
ENST00000333213.10:c.1106A>C	ENSP00000327487.6:p.Asp369Ala
ENST00000545228.2:c.195A>C
ENST00000583173.5:c.639A>C	ENSP00000463619.1:n.639A>C
NM_207346.2:c.1106A>C	NP_997229.2:p.Asp369Ala
XM_005257229.2:c.1106A>C	XP_005257286.1:p.Asp369Ala
XM_006721821.2:c.803A>C	XP_006721884.1:p.Asp268Ala
XM_011524616.1:c.1106A>C	XP_011522918.1:p.Asp369Ala
XM_011524617.1:c.1106A>C	XP_011522919.1:p.Asp369Ala
XM_011524618.1:c.1106A>C	XP_011522920.1:p.Asp369Ala
XR_243646.2:n.1136A>C
XM_005257229.4:c.1106A>C	XP_005257286.1:p.Asp369Ala
XR_243646.4:n.1142A>C
NM_207346.3:c.1106A>C MANE Select	NP_997229.2:p.Asp369Ala