Canonical Allele Identifier: CA360722744

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125887727C>A (hg19) ; chr5:g.126552035C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552035C>A , CM000667.2:g.126552035C>A	GRCh38
NC_000005.9:g.125887727C>A , CM000667.1:g.125887727C>A	GRCh37
NC_000005.8:g.125915626C>A	NCBI36
NG_008600.2:g.48356G>T
NG_008600.3:g.48356G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1303G>T MANE Select	ENSP00000387123.3:p.Val435Phe
ENST00000458249.6:c.*1212G>T	ENSP00000403929.1:n.*1212G>T
ENST00000497231.7:n.1730G>T
ENST00000503281.6:c.892G>T
ENST00000635851.1:c.1301G>T
ENST00000636062.1:n.1198G>T
ENST00000636225.1:c.*1247G>T	ENSP00000490797.1:n.*1247G>T
ENST00000636286.1:n.1021G>T
ENST00000636482.1:n.790G>T
ENST00000636743.1:c.1183G>T	ENSP00000489725.1:p.Val395Phe
ENST00000636808.1:c.*1112G>T	ENSP00000490833.1:n.*1112G>T
ENST00000636872.1:c.1463G>T	ENSP00000490919.1:n.1463G>T
ENST00000636879.1:c.1348G>T	ENSP00000490811.1:p.Val450Phe
ENST00000636886.1:c.1102G>T	ENSP00000490371.1:p.Val368Phe
ENST00000637206.1:c.1123G>T	ENSP00000489895.1:p.Val375Phe
ENST00000637272.1:c.1294G>T	ENSP00000489686.1:p.Val432Phe
ENST00000637292.1:c.774-1742G>T
ENST00000637782.1:c.1303G>T	ENSP00000490024.1:p.Val435Phe
ENST00000638008.1:c.*1147G>T	ENSP00000490400.1:n.*1147G>T
ENST00000638010.1:n.1249G>T
ENST00000409134.7:c.1303G>T	ENSP00000387123.3:p.Val435Phe
ENST00000447989.6:c.1192G>T	ENSP00000414132.2:p.Val398Phe
ENST00000476328.1:n.68G>T
ENST00000497231.6:n.1513G>T
ENST00000503281.5:c.892G>T
ENST00000553117.5:c.1111G>T	ENSP00000448593.1:p.Val371Phe
NM_001182.4:c.1303G>T	NP_001173.2:p.Val435Phe
NM_001201377.1:c.1219G>T	NP_001188306.1:p.Val407Phe
NM_001202404.1:c.1192G>T	NP_001189333.1:p.Val398Phe
XM_011543417.1:c.898G>T	XP_011541719.1:p.Val300Phe
XM_011543417.2:c.898G>T	XP_011541719.1:p.Val300Phe
NM_001182.5:c.1303G>T MANE Select	NP_001173.2:p.Val435Phe
NM_001201377.2:c.1219G>T	NP_001188306.1:p.Val407Phe
NM_001202404.2:c.1111G>T	NP_001189333.2:p.Val371Phe