Canonical Allele Identifier: CA446285443

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs2112815971
• MyVariant Identifiers: chr5:g.125928365G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126592673G>A , CM000667.2:g.126592673G>A	GRCh38
NC_000005.9:g.125928365G>A , CM000667.1:g.125928365G>A	GRCh37
NC_000005.8:g.125956264G>A	NCBI36
NG_008600.2:g.7718C>T
NG_008600.3:g.7718C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.303C>T MANE Select	ENSP00000387123.3:p.Ile101=
ENST00000412186.2:c.303C>T	ENSP00000414536.2:p.Ile101=
ENST00000413020.6:c.303C>T	ENSP00000487936.1:p.Ile101=
ENST00000458249.6:c.*212C>T	ENSP00000403929.1:n.*212C>T
ENST00000479989.6:n.486C>T
ENST00000503281.6:c.106+2334C>T
ENST00000509270.2:c.246+678C>T	ENSP00000449318.2:n.246+678C>T
ENST00000509459.6:c.65+2334C>T
ENST00000511266.6:n.1025C>T
ENST00000635851.1:c.301C>T
ENST00000635858.1:n.142C>T
ENST00000635933.1:n.332C>T
ENST00000636062.1:n.198C>T
ENST00000636190.1:n.182C>T
ENST00000636225.1:c.*112C>T	ENSP00000490797.1:n.*112C>T
ENST00000636743.1:c.192+2334C>T	ENSP00000489725.1:n.192+2334C>T
ENST00000636808.1:c.*112C>T	ENSP00000490833.1:n.*112C>T
ENST00000636872.1:c.463C>T	ENSP00000490919.1:n.463C>T
ENST00000636879.1:c.303C>T	ENSP00000490811.1:p.Ile101=
ENST00000636886.1:c.192+2334C>T	ENSP00000490371.1:n.192+2334C>T
ENST00000637206.1:c.303C>T	ENSP00000489895.1:p.Ile101=
ENST00000637272.1:c.303C>T	ENSP00000489686.1:p.Ile101=
ENST00000637782.1:c.303C>T	ENSP00000490024.1:p.Ile101=
ENST00000637964.1:c.249C>T	ENSP00000490291.1:p.Ile83=
ENST00000638008.1:c.*112C>T	ENSP00000490400.1:n.*112C>T
ENST00000409134.7:c.303C>T	ENSP00000387123.3:p.Ile101=
ENST00000412186.1:c.*112C>T	ENSP00000414536.1:n.*112C>T
ENST00000413020.5:c.303C>T	ENSP00000487936.1:p.Ile101=
ENST00000447989.6:c.384C>T	ENSP00000414132.2:p.Ile128=
ENST00000458249.5:c.463C>T	ENSP00000403929.1:n.463C>T
ENST00000479989.5:n.486C>T
ENST00000503281.5:c.106+2334C>T
ENST00000509270.1:c.192+2334C>T	ENSP00000449318.1:n.192+2334C>T
ENST00000509459.5:c.65+2334C>T
ENST00000510111.6:c.297C>T	ENSP00000447388.1:p.Ile99=
ENST00000511266.5:n.258C>T
ENST00000553117.5:c.303C>T	ENSP00000448593.1:p.Ile101=
NM_001182.4:c.303C>T	NP_001173.2:p.Ile101=
NM_001201377.1:c.219C>T	NP_001188306.1:p.Ile73=
NM_001202404.1:c.384C>T	NP_001189333.1:p.Ile128=
XM_011543417.1:c.-103C>T	XP_011541719.1:n.-103C>T
XM_011543417.2:c.-103C>T	XP_011541719.1:n.-103C>T
NM_001182.5:c.303C>T MANE Select	NP_001173.2:p.Ile101=
NM_001201377.2:c.219C>T	NP_001188306.1:p.Ile73=
NM_001202404.2:c.303C>T	NP_001189333.2:p.Ile101=