Canonical Allele Identifier: CA8764507

Gene: TSEN54

Linked Data

• dbSNP Id: rs752414760
• ExAC: 17:73520689 C / A
• gnomAD v2: 17-73520689-C-A
• gnomAD v4: 17-75524608-C-A
• MyVariant Identifiers: chr17:g.73520689C>A (hg19) ; chr17:g.75524608C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524608C>A , CM000679.2:g.75524608C>A	GRCh38
NC_000017.10:g.73520689C>A , CM000679.1:g.73520689C>A	GRCh37
NC_000017.9:g.71032284C>A	NCBI36
NG_013041.1:g.13081C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*196C>A MANE Select	ENSP00000327487.6:n.*196C>A
ENST00000434205.8:c.*196C>A	ENSP00000406559.4:n.*196C>A
ENST00000545228.3:c.*276C>A	ENSP00000438169.3:n.*276C>A
ENST00000577197.2:n.975C>A
ENST00000579449.2:n.2517C>A
ENST00000580013.6:n.2921C>A
ENST00000679370.1:n.3299C>A
ENST00000679429.1:c.*1235C>A	ENSP00000505403.1:n.*1235C>A
ENST00000679443.1:n.1846C>A
ENST00000679782.1:c.*476C>A	ENSP00000505995.1:n.*476C>A
ENST00000679919.1:n.2048C>A
ENST00000679928.1:c.*2329C>A	ENSP00000506071.1:n.*2329C>A
ENST00000680999.1:c.*196C>A	ENSP00000504984.1:n.*196C>A
ENST00000681282.1:c.*1964C>A	ENSP00000506339.1:n.*1964C>A
ENST00000333213.10:c.*196C>A	ENSP00000327487.6:n.*196C>A
ENST00000545228.2:c.1054C>A
ENST00000577197.1:n.525C>A
NM_207346.2:c.*196C>A	NP_997229.2:n.*196C>A
XM_005257229.2:c.*276C>A	XP_005257286.1:n.*276C>A
XM_006721821.2:c.*276C>A	XP_006721884.1:n.*276C>A
XM_011524616.1:c.*276C>A	XP_011522918.1:n.*276C>A
XM_011524618.1:c.*196C>A	XP_011522920.1:n.*196C>A
XR_243646.2:n.2009C>A
XM_005257229.4:c.*276C>A	XP_005257286.1:n.*276C>A
XR_243646.4:n.2015C>A
NM_207346.3:c.*196C>A MANE Select	NP_997229.2:n.*196C>A