Canonical Allele Identifier: CA627406685

Gene: TSEN54

Linked Data

• dbSNP Id: rs1244545738
• gnomAD v2: 17-73520704-A-C
• gnomAD v4: 17-75524623-A-C
• MyVariant Identifiers: chr17:g.73520704A>C (hg19) ; chr17:g.75524623A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524623A>C , CM000679.2:g.75524623A>C	GRCh38
NC_000017.10:g.73520704A>C , CM000679.1:g.73520704A>C	GRCh37
NC_000017.9:g.71032299A>C	NCBI36
NG_013041.1:g.13096A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*211A>C MANE Select	ENSP00000327487.6:n.*211A>C
ENST00000434205.8:c.*211A>C	ENSP00000406559.4:n.*211A>C
ENST00000545228.3:c.*291A>C	ENSP00000438169.3:n.*291A>C
ENST00000577197.2:n.990A>C
ENST00000579449.2:n.2532A>C
ENST00000580013.6:n.2936A>C
ENST00000679370.1:n.3314A>C
ENST00000679429.1:c.*1250A>C	ENSP00000505403.1:n.*1250A>C
ENST00000679443.1:n.1861A>C
ENST00000679782.1:c.*491A>C	ENSP00000505995.1:n.*491A>C
ENST00000679919.1:n.2063A>C
ENST00000679928.1:c.*2344A>C	ENSP00000506071.1:n.*2344A>C
ENST00000680999.1:c.*211A>C	ENSP00000504984.1:n.*211A>C
ENST00000681282.1:c.*1979A>C	ENSP00000506339.1:n.*1979A>C
ENST00000333213.10:c.*211A>C	ENSP00000327487.6:n.*211A>C
ENST00000545228.2:c.1069A>C
ENST00000577197.1:n.540A>C
NM_207346.2:c.*211A>C	NP_997229.2:n.*211A>C
XM_005257229.2:c.*291A>C	XP_005257286.1:n.*291A>C
XM_006721821.2:c.*291A>C	XP_006721884.1:n.*291A>C
XM_011524616.1:c.*291A>C	XP_011522918.1:n.*291A>C
XM_011524618.1:c.*211A>C	XP_011522920.1:n.*211A>C
XR_243646.2:n.2024A>C
XM_005257229.4:c.*291A>C	XP_005257286.1:n.*291A>C
XR_243646.4:n.2030A>C
NM_207346.3:c.*211A>C MANE Select	NP_997229.2:n.*211A>C