Canonical Allele Identifier: CA360718807

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 465325
• ClinVar RCV Id: RCV000544167 ; RCV002404449 ; RCV003441932
• dbSNP Id: rs1554097854
• MyVariant Identifiers: chr5:g.125882022G>A (hg19) ; chr5:g.126546330G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546330G>A , CM000667.2:g.126546330G>A	GRCh38
NC_000005.9:g.125882022G>A , CM000667.1:g.125882022G>A	GRCh37
NC_000005.8:g.125909921G>A	NCBI36
NG_008600.2:g.54061C>T
NG_008600.3:g.54061C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1559C>T MANE Select	ENSP00000387123.3:p.Ser520Phe
ENST00000458249.6:c.*1468C>T	ENSP00000403929.1:n.*1468C>T
ENST00000485852.7:n.306C>T
ENST00000497231.7:n.1986C>T
ENST00000635851.1:c.1557C>T
ENST00000636286.1:n.1324C>T
ENST00000636482.1:n.1093C>T
ENST00000636743.1:c.1439C>T	ENSP00000489725.1:p.Ser480Phe
ENST00000636808.1:c.*1368C>T	ENSP00000490833.1:n.*1368C>T
ENST00000636872.1:c.1719C>T	ENSP00000490919.1:n.1719C>T
ENST00000636879.1:c.1604C>T	ENSP00000490811.1:p.Ser535Phe
ENST00000636886.1:c.1358C>T	ENSP00000490371.1:p.Ser453Phe
ENST00000637206.1:c.1379C>T	ENSP00000489895.1:p.Ser460Phe
ENST00000637272.1:c.1550C>T	ENSP00000489686.1:p.Ser517Phe
ENST00000637292.1:c.1015C>T
ENST00000637782.1:c.1559C>T	ENSP00000490024.1:p.Ser520Phe
ENST00000638008.1:c.*1403C>T	ENSP00000490400.1:n.*1403C>T
ENST00000638010.1:n.1505C>T
ENST00000409134.7:c.1559C>T	ENSP00000387123.3:p.Ser520Phe
ENST00000447989.6:c.1448C>T	ENSP00000414132.2:p.Ser483Phe
ENST00000485852.6:n.306C>T
ENST00000497231.6:n.1769C>T
ENST00000553117.5:c.1367C>T	ENSP00000448593.1:p.Ser456Phe
NM_001182.4:c.1559C>T	NP_001173.2:p.Ser520Phe
NM_001201377.1:c.1475C>T	NP_001188306.1:p.Ser492Phe
NM_001202404.1:c.1448C>T	NP_001189333.1:p.Ser483Phe
XM_011543417.1:c.1154C>T	XP_011541719.1:p.Ser385Phe
XM_011543417.2:c.1154C>T	XP_011541719.1:p.Ser385Phe
NM_001182.5:c.1559C>T MANE Select	NP_001173.2:p.Ser520Phe
NM_001201377.2:c.1475C>T	NP_001188306.1:p.Ser492Phe
NM_001202404.2:c.1367C>T	NP_001189333.2:p.Ser456Phe