Canonical Allele Identifier: CA206656

Gene: L2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50247181T>C , CM000676.2:g.50247181T>C	GRCh38
NC_000014.8:g.50713899T>C , CM000676.1:g.50713899T>C	GRCh37
NC_000014.7:g.49783649T>C	NCBI36
NG_008092.1:g.70049A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.1269A>G MANE Select	NP_079160.1:p.Ala423=
ENST00000267436.9:c.1269A>G MANE Select	ENSP00000267436.4:p.Ala423=
NM_024884.2:c.1269A>G	NP_079160.1:p.Ala423=
ENST00000261699.8:c.1197-9456A>G	ENSP00000261699.4:n.1197-9456A>G
ENST00000267436.8:c.1269A>G	ENSP00000267436.4:p.Ala423=
ENST00000421284.7:c.1269A>G	ENSP00000405559.3:p.Ala423=
XM_005268075.3:c.1269A>G	XP_005268132.1:p.Ala423=
XM_005268075.5:c.1269A>G	XP_005268132.1:p.Ala423=
XM_011537166.1:c.1158A>G	XP_011535468.1:p.Ala386=
XM_011537166.3:c.1158A>G	XP_011535468.1:p.Ala386=
XM_011537167.1:c.1134A>G	XP_011535469.1:p.Ala378=
XM_011537167.3:c.1134A>G	XP_011535469.1:p.Ala378=
XM_011537168.1:c.723A>G	XP_011535470.1:p.Ala241=
XM_011537168.3:c.723A>G	XP_011535470.1:p.Ala241=
XM_011537169.1:c.723A>G	XP_011535471.1:p.Ala241=
XM_017021655.2:c.1158A>G	XP_016877144.1:p.Ala386=
XM_017021656.2:c.723A>G	XP_016877145.1:p.Ala241=
XM_017021657.2:c.723A>G	XP_016877146.1:p.Ala241=