Canonical Allele Identifier: CA360717840

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880696A>C (hg19) ; chr5:g.126545004A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545004A>C , CM000667.2:g.126545004A>C	GRCh38
NC_000005.9:g.125880696A>C , CM000667.1:g.125880696A>C	GRCh37
NC_000005.8:g.125908595A>C	NCBI36
NG_008600.2:g.55387T>G
NG_008600.3:g.55387T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1581T>G MANE Select	ENSP00000387123.3:p.Ser527Arg
ENST00000458249.6:c.*1490T>G	ENSP00000403929.1:n.*1490T>G
ENST00000485852.7:n.328T>G
ENST00000497231.7:n.2008T>G
ENST00000635851.1:c.1563+1320T>G
ENST00000636286.1:n.1346T>G
ENST00000636482.1:n.1115T>G
ENST00000636743.1:c.1461T>G	ENSP00000489725.1:p.Ser487Arg
ENST00000636808.1:c.*1390T>G	ENSP00000490833.1:n.*1390T>G
ENST00000636872.1:c.1741T>G	ENSP00000490919.1:n.1741T>G
ENST00000636879.1:c.1626T>G	ENSP00000490811.1:p.Ser542Arg
ENST00000636886.1:c.1380T>G	ENSP00000490371.1:p.Ser460Arg
ENST00000637206.1:c.1401T>G	ENSP00000489895.1:p.Ser467Arg
ENST00000637272.1:c.1572T>G	ENSP00000489686.1:p.Ser524Arg
ENST00000637292.1:c.1037T>G
ENST00000637782.1:c.1565+1320T>G	ENSP00000490024.1:n.1565+1320T>G
ENST00000638008.1:c.*1425T>G	ENSP00000490400.1:n.*1425T>G
ENST00000638010.1:n.1527T>G
ENST00000409134.7:c.1581T>G	ENSP00000387123.3:p.Ser527Arg
ENST00000447989.6:c.1470T>G	ENSP00000414132.2:p.Ser490Arg
ENST00000485852.6:n.328T>G
ENST00000497231.6:n.1791T>G
ENST00000553117.5:c.1389T>G	ENSP00000448593.1:p.Ser463Arg
NM_001182.4:c.1581T>G	NP_001173.2:p.Ser527Arg
NM_001201377.1:c.1497T>G	NP_001188306.1:p.Ser499Arg
NM_001202404.1:c.1470T>G	NP_001189333.1:p.Ser490Arg
XM_011543417.1:c.1176T>G	XP_011541719.1:p.Ser392Arg
XM_011543417.2:c.1176T>G	XP_011541719.1:p.Ser392Arg
NM_001182.5:c.1581T>G MANE Select	NP_001173.2:p.Ser527Arg
NM_001201377.2:c.1497T>G	NP_001188306.1:p.Ser499Arg
NM_001202404.2:c.1389T>G	NP_001189333.2:p.Ser463Arg