Canonical Allele Identifier: CA401026809

Gene: TSEN54

Linked Data

• dbSNP Id: rs886053394
• gnomAD v2: 17-73512654-C-G
• MyVariant Identifiers: chr17:g.73512654C>G (hg19) ; chr17:g.75516573C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516573C>G , CM000679.2:g.75516573C>G	GRCh38
NC_000017.10:g.73512654C>G , CM000679.1:g.73512654C>G	GRCh37
NC_000017.9:g.71024249C>G	NCBI36
NG_013041.1:g.5046C>G
NG_033152.1:g.4011G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.13C>G MANE Select	ENSP00000327487.6:p.Pro5Ala
ENST00000434205.8:c.-83+187C>G	ENSP00000406559.4:n.-83+187C>G
ENST00000545228.3:c.13C>G	ENSP00000438169.3:p.Pro5Ala
ENST00000580013.6:n.22C>G
ENST00000583818.2:c.13C>G	ENSP00000461928.2:p.Pro5Ala
ENST00000679370.1:n.444-173C>G
ENST00000679429.1:c.13C>G	ENSP00000505403.1:p.Pro5Ala
ENST00000679782.1:c.13C>G	ENSP00000505995.1:p.Pro5Ala
ENST00000679928.1:c.13C>G	ENSP00000506071.1:p.Pro5Ala
ENST00000680528.1:n.38C>G
ENST00000680999.1:c.13C>G	ENSP00000504984.1:p.Pro5Ala
ENST00000681282.1:c.13C>G	ENSP00000506339.1:p.Pro5Ala
ENST00000333213.10:c.13C>G	ENSP00000327487.6:p.Pro5Ala
ENST00000434205.7:c.-83+187C>G	ENSP00000406559.3:n.-83+187C>G
ENST00000580013.5:n.38C>G
ENST00000583173.5:c.13C>G	ENSP00000463619.1:p.Pro5Ala
ENST00000583454.1:n.48C>G
NM_207346.2:c.13C>G	NP_997229.2:p.Pro5Ala
XM_005257229.2:c.13C>G	XP_005257286.1:p.Pro5Ala
XM_006721821.2:c.-247-173C>G	XP_006721884.1:n.-247-173C>G
XM_011524616.1:c.13C>G	XP_011522918.1:p.Pro5Ala
XM_011524617.1:c.13C>G	XP_011522919.1:p.Pro5Ala
XM_011524618.1:c.13C>G	XP_011522920.1:p.Pro5Ala
XR_243646.2:n.43C>G
XM_005257229.4:c.13C>G	XP_005257286.1:p.Pro5Ala
XR_243646.4:n.49C>G
NM_207346.3:c.13C>G MANE Select	NP_997229.2:p.Pro5Ala