Canonical Allele Identifier: CA775078741

Gene: TSEN54

Linked Data

• dbSNP Id: rs1348371579
• gnomAD v4: 17-75524620-A-G
• MyVariant Identifiers: chr17:g.73520701A>G (hg19) ; chr17:g.75524620A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524620A>G , CM000679.2:g.75524620A>G	GRCh38
NC_000017.10:g.73520701A>G , CM000679.1:g.73520701A>G	GRCh37
NC_000017.9:g.71032296A>G	NCBI36
NG_013041.1:g.13093A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*208A>G MANE Select	ENSP00000327487.6:n.*208A>G
ENST00000434205.8:c.*208A>G	ENSP00000406559.4:n.*208A>G
ENST00000545228.3:c.*288A>G	ENSP00000438169.3:n.*288A>G
ENST00000577197.2:n.987A>G
ENST00000579449.2:n.2529A>G
ENST00000580013.6:n.2933A>G
ENST00000679370.1:n.3311A>G
ENST00000679429.1:c.*1247A>G	ENSP00000505403.1:n.*1247A>G
ENST00000679443.1:n.1858A>G
ENST00000679782.1:c.*488A>G	ENSP00000505995.1:n.*488A>G
ENST00000679919.1:n.2060A>G
ENST00000679928.1:c.*2341A>G	ENSP00000506071.1:n.*2341A>G
ENST00000680999.1:c.*208A>G	ENSP00000504984.1:n.*208A>G
ENST00000681282.1:c.*1976A>G	ENSP00000506339.1:n.*1976A>G
ENST00000333213.10:c.*208A>G	ENSP00000327487.6:n.*208A>G
ENST00000545228.2:c.1066A>G
ENST00000577197.1:n.537A>G
NM_207346.2:c.*208A>G	NP_997229.2:n.*208A>G
XM_005257229.2:c.*288A>G	XP_005257286.1:n.*288A>G
XM_006721821.2:c.*288A>G	XP_006721884.1:n.*288A>G
XM_011524616.1:c.*288A>G	XP_011522918.1:n.*288A>G
XM_011524618.1:c.*208A>G	XP_011522920.1:n.*208A>G
XR_243646.2:n.2021A>G
XM_005257229.4:c.*288A>G	XP_005257286.1:n.*288A>G
XR_243646.4:n.2027A>G
NM_207346.3:c.*208A>G MANE Select	NP_997229.2:n.*208A>G