Canonical Allele Identifier: CA401031242

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053476209
• gnomAD v3: 17-75524323-G-A
• gnomAD v4: 17-75524323-G-A
• MyVariant Identifiers: chr17:g.73520404G>A (hg19) ; chr17:g.75524323G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524323G>A , CM000679.2:g.75524323G>A	GRCh38
NC_000017.10:g.73520404G>A , CM000679.1:g.73520404G>A	GRCh37
NC_000017.9:g.71031999G>A	NCBI36
NG_013041.1:g.12796G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1492G>A MANE Select	ENSP00000327487.6:p.Val498Ile
ENST00000434205.8:c.1189G>A	ENSP00000406559.4:p.Val397Ile
ENST00000545228.3:c.1680G>A	ENSP00000438169.3:p.Met560Ile
ENST00000577197.2:n.690G>A
ENST00000579449.2:n.2232G>A
ENST00000580013.6:n.2636G>A
ENST00000679370.1:n.3014G>A
ENST00000679429.1:c.*950G>A	ENSP00000505403.1:n.*950G>A
ENST00000679443.1:n.1561G>A
ENST00000679782.1:c.*191G>A	ENSP00000505995.1:n.*191G>A
ENST00000679919.1:n.1763G>A
ENST00000679928.1:c.*2044G>A	ENSP00000506071.1:n.*2044G>A
ENST00000680528.1:n.2458G>A
ENST00000680999.1:c.1705G>A	ENSP00000504984.1:p.Val569Ile
ENST00000681282.1:c.*1679G>A	ENSP00000506339.1:n.*1679G>A
ENST00000333213.10:c.1492G>A	ENSP00000327487.6:p.Val498Ile
ENST00000545228.2:c.769G>A
ENST00000577197.1:n.240G>A
ENST00000579449.1:n.689G>A
NM_207346.2:c.1492G>A	NP_997229.2:p.Val498Ile
XM_005257229.2:c.1680G>A	XP_005257286.1:p.Met560Ile
XM_006721821.2:c.1377G>A	XP_006721884.1:p.Met459Ile
XM_011524616.1:c.1563G>A	XP_011522918.1:p.Met521Ile
XM_011524617.1:c.*74G>A	XP_011522919.1:n.*74G>A
XM_011524618.1:c.1375G>A	XP_011522920.1:p.Val459Ile
XR_243646.2:n.1724G>A
XM_005257229.4:c.1680G>A	XP_005257286.1:p.Met560Ile
XR_001753015.1:n.75C>T
XR_001753016.1:n.76C>T
XR_243646.4:n.1730G>A
NM_207346.3:c.1492G>A MANE Select	NP_997229.2:p.Val498Ile