LDH info

Canonical Allele Identifier: CA257407314
Gene: APEX1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs17111967

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20456166C>T , CM000676.2:g.20456166C>T GRCh38
NC_000014.8:g.20924325C>T , CM000676.1:g.20924325C>T GRCh37
NC_000014.7:g.19994165C>T NCBI36
NG_008718.1:g.6036C>T

Transcript Alleles

HGVS Amino-acid change
NM_001244249.1:c.246+65C>T VV NP_001231178.1:p.=
NM_001641.3:c.246+65C>T VV NP_001632.2:p.=
NM_080648.2:c.246+65C>T VV NP_542379.1:p.=
NM_080649.2:c.246+65C>T VV NP_542380.1:p.=
XM_005267581.3:c.246+65C>T XP_005267638.1:p.=
XM_005267582.3:c.195+65C>T XP_005267639.1:p.=
NM_001641.4:c.246+65C>T VV MANE Preferred NP_001632.2:p.=
ENST00000216714.7:c.246+65C>T ENSP00000216714.3:p.=
ENST00000398030.8:c.246+65C>T ENSP00000381111.4:p.=
ENST00000438886.1:n.95+65C>T
ENST00000553555.5:n.666+65C>T
ENST00000553681.5:c.246+65C>T ENSP00000451327.1:p.=
ENST00000554325.1:c.*166+65C>T ENSP00000450604.1:p.=
ENST00000554813.5:n.312+65C>T
ENST00000555306.5:n.693+65C>T
ENST00000555414.5:c.246+65C>T ENSP00000451979.1:p.=
ENST00000555839.5:c.246+65C>T ENSP00000452460.1:p.=
ENST00000556054.5:c.246+65C>T ENSP00000451170.1:p.=
ENST00000557054.1:c.27+494C>T ENSP00000452212.2:p.=
ENST00000557150.5:c.195+65C>T ENSP00000452418.1:p.=
ENST00000557159.5:n.862+65C>T
ENST00000557181.5:c.246+65C>T ENSP00000452304.1:p.=
ENST00000557344.5:c.246+65C>T ENSP00000452137.1:p.=
ENST00000557365.1:n.326+65C>T
ENST00000557592.5:c.195+65C>T ENSP00000451060.1:p.=