Canonical Allele Identifier: CA627406666

Gene: TSEN54

Linked Data

• dbSNP Id: rs1250607160
• gnomAD v2: 17-73520643-G-A
• gnomAD v3: 17-75524562-G-A
• gnomAD v4: 17-75524562-G-A
• MyVariant Identifiers: chr17:g.73520643G>A (hg19) ; chr17:g.75524562G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524562G>A , CM000679.2:g.75524562G>A	GRCh38
NC_000017.10:g.73520643G>A , CM000679.1:g.73520643G>A	GRCh37
NC_000017.9:g.71032238G>A	NCBI36
NG_013041.1:g.13035G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*150G>A MANE Select	ENSP00000327487.6:n.*150G>A
ENST00000434205.8:c.*150G>A	ENSP00000406559.4:n.*150G>A
ENST00000545228.3:c.*230G>A	ENSP00000438169.3:n.*230G>A
ENST00000577197.2:n.929G>A
ENST00000579449.2:n.2471G>A
ENST00000580013.6:n.2875G>A
ENST00000679370.1:n.3253G>A
ENST00000679429.1:c.*1189G>A	ENSP00000505403.1:n.*1189G>A
ENST00000679443.1:n.1800G>A
ENST00000679782.1:c.*430G>A	ENSP00000505995.1:n.*430G>A
ENST00000679919.1:n.2002G>A
ENST00000679928.1:c.*2283G>A	ENSP00000506071.1:n.*2283G>A
ENST00000680999.1:c.*150G>A	ENSP00000504984.1:n.*150G>A
ENST00000681282.1:c.*1918G>A	ENSP00000506339.1:n.*1918G>A
ENST00000333213.10:c.*150G>A	ENSP00000327487.6:n.*150G>A
ENST00000545228.2:c.1008G>A
ENST00000577197.1:n.479G>A
NM_207346.2:c.*150G>A	NP_997229.2:n.*150G>A
XM_005257229.2:c.*230G>A	XP_005257286.1:n.*230G>A
XM_006721821.2:c.*230G>A	XP_006721884.1:n.*230G>A
XM_011524616.1:c.*230G>A	XP_011522918.1:n.*230G>A
XM_011524618.1:c.*150G>A	XP_011522920.1:n.*150G>A
XR_243646.2:n.1963G>A
XM_005257229.4:c.*230G>A	XP_005257286.1:n.*230G>A
XR_243646.4:n.1969G>A
NM_207346.3:c.*150G>A MANE Select	NP_997229.2:n.*150G>A