Canonical Allele Identifier: CA646999

Gene: ALDH4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18876435G>A , CM000663.2:g.18876435G>A	GRCh38
NC_000001.10:g.19202929G>A , CM000663.1:g.19202929G>A	GRCh37
NC_000001.9:g.19075516G>A	NCBI36
NG_012283.1:g.31365C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003748.4:c.1218C>T MANE Select	NP_003739.2:p.His406=
ENST00000375341.8:c.1218C>T MANE Select	ENSP00000364490.3:p.His406=
NM_001161504.1:c.1038C>T	NP_001154976.1:p.His346=
NM_001161504.2:c.1038C>T	NP_001154976.1:p.His346=
NM_001319218.1:c.1185+773C>T	NP_001306147.1:n.1185+773C>T
NM_001319218.2:c.1185+773C>T	NP_001306147.1:n.1185+773C>T
NM_003748.3:c.1218C>T	NP_003739.2:p.His406=
NM_170726.2:c.1218C>T	NP_733844.1:p.His406=
NM_170726.3:c.1218C>T	NP_733844.1:p.His406=
ENST00000290597.9:c.1218C>T	ENSP00000290597.5:p.His406=
ENST00000375341.7:c.1218C>T	ENSP00000364490.3:p.His406=
ENST00000494072.3:c.2270C>T
ENST00000538309.5:c.1038C>T	ENSP00000442988.1:p.His346=
ENST00000538839.5:c.1185+773C>T	ENSP00000446071.1:n.1185+773C>T
XM_011542352.1:c.1185+773C>T	XP_011540654.1:n.1185+773C>T
XM_011542353.1:c.*7+773C>T	XP_011540655.1:n.*7+773C>T
XR_001737510.1:n.1054+773C>T
XR_946786.1:n.1087C>T