Canonical Allele Identifier: CA294080868

Gene: TSEN54

Linked Data

• dbSNP Id: rs574027505
• gnomAD v2: 17-73520419-G-T
• gnomAD v3: 17-75524338-G-T
• gnomAD v4: 17-75524338-G-T
• MyVariant Identifiers: chr17:g.73520419G>T (hg19) ; chr17:g.75524338G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524338G>T , CM000679.2:g.75524338G>T	GRCh38
NC_000017.10:g.73520419G>T , CM000679.1:g.73520419G>T	GRCh37
NC_000017.9:g.71032014G>T	NCBI36
NG_013041.1:g.12811G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1507G>T MANE Select	ENSP00000327487.6:p.Ala503Ser
ENST00000434205.8:c.1204G>T	ENSP00000406559.4:p.Ala402Ser
ENST00000545228.3:c.*6G>T	ENSP00000438169.3:n.*6G>T
ENST00000577197.2:n.705G>T
ENST00000579449.2:n.2247G>T
ENST00000580013.6:n.2651G>T
ENST00000679370.1:n.3029G>T
ENST00000679429.1:c.*965G>T	ENSP00000505403.1:n.*965G>T
ENST00000679443.1:n.1576G>T
ENST00000679782.1:c.*206G>T	ENSP00000505995.1:n.*206G>T
ENST00000679919.1:n.1778G>T
ENST00000679928.1:c.*2059G>T	ENSP00000506071.1:n.*2059G>T
ENST00000680528.1:n.2473G>T
ENST00000680999.1:c.1720G>T	ENSP00000504984.1:p.Ala574Ser
ENST00000681282.1:c.*1694G>T	ENSP00000506339.1:n.*1694G>T
ENST00000333213.10:c.1507G>T	ENSP00000327487.6:p.Ala503Ser
ENST00000545228.2:c.784G>T
ENST00000577197.1:n.255G>T
ENST00000579449.1:n.704G>T
NM_207346.2:c.1507G>T	NP_997229.2:p.Ala503Ser
XM_005257229.2:c.*6G>T	XP_005257286.1:n.*6G>T
XM_006721821.2:c.*6G>T	XP_006721884.1:n.*6G>T
XM_011524616.1:c.*6G>T	XP_011522918.1:n.*6G>T
XM_011524617.1:c.*89G>T	XP_011522919.1:n.*89G>T
XM_011524618.1:c.1390G>T	XP_011522920.1:p.Ala464Ser
XR_243646.2:n.1739G>T
XM_005257229.4:c.*6G>T	XP_005257286.1:n.*6G>T
XR_001753015.1:n.60C>A
XR_001753016.1:n.61C>A
XR_243646.4:n.1745G>T
NM_207346.3:c.1507G>T MANE Select	NP_997229.2:p.Ala503Ser