Canonical Allele Identifier: CA360723087

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125887763T>A (hg19) ; chr5:g.126552071T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552071T>A , CM000667.2:g.126552071T>A	GRCh38
NC_000005.9:g.125887763T>A , CM000667.1:g.125887763T>A	GRCh37
NC_000005.8:g.125915662T>A	NCBI36
NG_008600.2:g.48320A>T
NG_008600.3:g.48320A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1267A>T MANE Select	ENSP00000387123.3:p.Ile423Phe
ENST00000458249.6:c.*1176A>T	ENSP00000403929.1:n.*1176A>T
ENST00000497231.7:n.1694A>T
ENST00000503281.6:c.856A>T
ENST00000635851.1:c.1265A>T
ENST00000636062.1:n.1162A>T
ENST00000636225.1:c.*1211A>T	ENSP00000490797.1:n.*1211A>T
ENST00000636286.1:n.985A>T
ENST00000636482.1:n.754A>T
ENST00000636743.1:c.1147A>T	ENSP00000489725.1:p.Ile383Phe
ENST00000636808.1:c.*1076A>T	ENSP00000490833.1:n.*1076A>T
ENST00000636872.1:c.1427A>T	ENSP00000490919.1:n.1427A>T
ENST00000636879.1:c.1312A>T	ENSP00000490811.1:p.Ile438Phe
ENST00000636886.1:c.1066A>T	ENSP00000490371.1:p.Ile356Phe
ENST00000637206.1:c.1087A>T	ENSP00000489895.1:p.Ile363Phe
ENST00000637272.1:c.1258A>T	ENSP00000489686.1:p.Ile420Phe
ENST00000637292.1:c.774-1778A>T
ENST00000637782.1:c.1267A>T	ENSP00000490024.1:p.Ile423Phe
ENST00000638008.1:c.*1111A>T	ENSP00000490400.1:n.*1111A>T
ENST00000638010.1:n.1213A>T
ENST00000409134.7:c.1267A>T	ENSP00000387123.3:p.Ile423Phe
ENST00000447989.6:c.1156A>T	ENSP00000414132.2:p.Ile386Phe
ENST00000476328.1:n.32A>T
ENST00000497231.6:n.1477A>T
ENST00000503281.5:c.856A>T
ENST00000553117.5:c.1075A>T	ENSP00000448593.1:p.Ile359Phe
NM_001182.4:c.1267A>T	NP_001173.2:p.Ile423Phe
NM_001201377.1:c.1183A>T	NP_001188306.1:p.Ile395Phe
NM_001202404.1:c.1156A>T	NP_001189333.1:p.Ile386Phe
XM_011543417.1:c.862A>T	XP_011541719.1:p.Ile288Phe
XM_011543417.2:c.862A>T	XP_011541719.1:p.Ile288Phe
NM_001182.5:c.1267A>T MANE Select	NP_001173.2:p.Ile423Phe
NM_001201377.2:c.1183A>T	NP_001188306.1:p.Ile395Phe
NM_001202404.2:c.1075A>T	NP_001189333.2:p.Ile359Phe