Canonical Allele Identifier: CA360717942

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880706A>C (hg19) ; chr5:g.126545014A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545014A>C , CM000667.2:g.126545014A>C	GRCh38
NC_000005.9:g.125880706A>C , CM000667.1:g.125880706A>C	GRCh37
NC_000005.8:g.125908605A>C	NCBI36
NG_008600.2:g.55377T>G
NG_008600.3:g.55377T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1571T>G MANE Select	ENSP00000387123.3:p.Ile524Ser
ENST00000458249.6:c.*1480T>G	ENSP00000403929.1:n.*1480T>G
ENST00000485852.7:n.318T>G
ENST00000497231.7:n.1998T>G
ENST00000635851.1:c.1563+1310T>G
ENST00000636286.1:n.1336T>G
ENST00000636482.1:n.1105T>G
ENST00000636743.1:c.1451T>G	ENSP00000489725.1:p.Ile484Ser
ENST00000636808.1:c.*1380T>G	ENSP00000490833.1:n.*1380T>G
ENST00000636872.1:c.1731T>G	ENSP00000490919.1:n.1731T>G
ENST00000636879.1:c.1616T>G	ENSP00000490811.1:p.Ile539Ser
ENST00000636886.1:c.1370T>G	ENSP00000490371.1:p.Ile457Ser
ENST00000637206.1:c.1391T>G	ENSP00000489895.1:p.Ile464Ser
ENST00000637272.1:c.1562T>G	ENSP00000489686.1:p.Ile521Ser
ENST00000637292.1:c.1027T>G
ENST00000637782.1:c.1565+1310T>G	ENSP00000490024.1:n.1565+1310T>G
ENST00000638008.1:c.*1415T>G	ENSP00000490400.1:n.*1415T>G
ENST00000638010.1:n.1517T>G
ENST00000409134.7:c.1571T>G	ENSP00000387123.3:p.Ile524Ser
ENST00000447989.6:c.1460T>G	ENSP00000414132.2:p.Ile487Ser
ENST00000485852.6:n.318T>G
ENST00000497231.6:n.1781T>G
ENST00000553117.5:c.1379T>G	ENSP00000448593.1:p.Ile460Ser
NM_001182.4:c.1571T>G	NP_001173.2:p.Ile524Ser
NM_001201377.1:c.1487T>G	NP_001188306.1:p.Ile496Ser
NM_001202404.1:c.1460T>G	NP_001189333.1:p.Ile487Ser
XM_011543417.1:c.1166T>G	XP_011541719.1:p.Ile389Ser
XM_011543417.2:c.1166T>G	XP_011541719.1:p.Ile389Ser
NM_001182.5:c.1571T>G MANE Select	NP_001173.2:p.Ile524Ser
NM_001201377.2:c.1487T>G	NP_001188306.1:p.Ile496Ser
NM_001202404.2:c.1379T>G	NP_001189333.2:p.Ile460Ser