Canonical Allele Identifier: CA334698437

Gene: PLS3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.115640193C>T , CM000685.2:g.115640193C>T	GRCh38
NC_000023.10:g.114874505C>T , CM000685.1:g.114874505C>T	GRCh37
NC_000023.9:g.114780761C>T	NCBI36
NG_012518.2:g.84315C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005032.7:c.892-215C>T MANE Select	NP_005023.2:n.892-215C>T
ENST00000355899.8:c.892-215C>T MANE Select	ENSP00000348163.3:n.892-215C>T
NM_001136025.4:c.892-215C>T	NP_001129497.1:n.892-215C>T
NM_001136025.5:c.892-215C>T	NP_001129497.1:n.892-215C>T
NM_001172335.2:c.811-215C>T	NP_001165806.1:n.811-215C>T
NM_001172335.3:c.811-215C>T	NP_001165806.1:n.811-215C>T
NM_001282337.1:c.852+57C>T	NP_001269266.1:n.852+57C>T
NM_001282337.2:c.852+57C>T	NP_001269266.1:n.852+57C>T
NM_001282338.1:c.757-215C>T	NP_001269267.1:n.757-215C>T
NM_001282338.2:c.757-215C>T	NP_001269267.1:n.757-215C>T
NM_005032.6:c.892-215C>T	NP_005023.2:n.892-215C>T
ENST00000289290.7:c.852+57C>T	ENSP00000289290.4:n.852+57C>T
ENST00000355899.7:c.892-215C>T	ENSP00000348163.3:n.892-215C>T
ENST00000420625.6:c.852+57C>T	ENSP00000398945.3:n.852+57C>T
ENST00000481823.5:c.*1145-215C>T	ENSP00000419051.1:n.*1145-215C>T
ENST00000497870.1:c.53-215C>T
ENST00000539310.5:c.892-215C>T	ENSP00000445339.2:n.892-215C>T
XM_011537534.1:c.892-215C>T	XP_011535836.1:n.892-215C>T