Canonical Allele Identifier: CA309374809

Gene: TSEN34

Linked Data

• ClinVar Variation Id: 330129
• ClinVar RCV Id: RCV000354226
• dbSNP Id: rs781446570
• gnomAD v4: 19-54192219-C-G
• MyVariant Identifiers: chr19:g.54192219C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54192219C>G , CM000681.2:g.54192219C>G	GRCh38
NC_000019.8:g.59387882C>G	NCBI36
NG_015810.2:g.6985C>G
NG_033045.2:g.2657G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396388.3:c.591C>G MANE Select	ENSP00000379671.2:p.Ala197=
ENST00000429671.7:c.591C>G	ENSP00000397402.4:p.Ala197=
ENST00000455798.6:c.591C>G	ENSP00000400743.2:p.Ala197=
ENST00000653273.2:c.570C>G	ENSP00000499319.2:p.Ala190=
ENST00000665674.2:c.570C>G	ENSP00000499684.2:p.Ala190=
ENST00000667261.1:c.591C>G	ENSP00000499595.1:p.Ala197=
ENST00000302937.8:c.591C>G	ENSP00000305524.4:p.Ala197=
ENST00000396383.5:c.591C>G	ENSP00000379667.1:p.Ala197=
ENST00000396388.2:c.591C>G	ENSP00000379671.2:p.Ala197=
ENST00000429671.6:c.600C>G	ENSP00000397402.3:p.Ala200=
ENST00000455798.5:c.591C>G	ENSP00000400743.1:p.Ala197=
ENST00000456872.5:c.600C>G	ENSP00000408689.1:p.Ala200=
ENST00000496583.1:n.1726C>G
NM_001077446.3:c.591C>G	NP_001070914.1:p.Ala197=
NM_001282332.1:c.591C>G	NP_001269261.1:p.Ala197=
NM_001282333.1:c.600C>G	NP_001269262.1:p.Ala200=
NM_024075.4:c.591C>G	NP_076980.2:p.Ala197=
XM_005278290.3:c.600C>G	XP_005278347.1:p.Ala200=
XM_011527294.1:c.591C>G	XP_011525596.1:p.Ala197=
XM_011527295.1:c.591C>G	XP_011525597.1:p.Ala197=
XM_005278290.4:c.600C>G	XP_005278347.1:p.Ala200=
XM_011527294.3:c.591C>G	XP_011525596.1:p.Ala197=
NM_001077446.4:c.591C>G MANE Select	NP_001070914.1:p.Ala197=
NM_024075.5:c.591C>G	NP_076980.2:p.Ala197=
NM_001282332.2:c.591C>G	NP_001269261.1:p.Ala197=
NM_001282333.2:c.591C>G	NP_001269262.2:p.Ala197=
NM_001386740.1:c.591C>G	NP_001373669.1:p.Ala197=