Canonical Allele Identifier: CA360731103

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912831G>T (hg19) ; chr5:g.126577139G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577139G>T , CM000667.2:g.126577139G>T	GRCh38
NC_000005.9:g.125912831G>T , CM000667.1:g.125912831G>T	GRCh37
NC_000005.8:g.125940730G>T	NCBI36
NG_008600.2:g.23252C>A
NG_008600.3:g.23252C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.590C>A MANE Select	ENSP00000387123.3:p.Pro197His
ENST00000412186.2:c.466C>A	ENSP00000414536.2:n.466C>A
ENST00000413020.6:c.590C>A	ENSP00000487936.1:p.Pro197His
ENST00000458249.6:c.*499C>A	ENSP00000403929.1:n.*499C>A
ENST00000503281.6:c.179C>A
ENST00000509270.2:c.524C>A	ENSP00000449318.2:p.Pro175His
ENST00000509459.6:c.138C>A
ENST00000511266.6:n.1312C>A
ENST00000635851.1:c.588C>A
ENST00000636062.1:n.485C>A
ENST00000636225.1:c.*399C>A	ENSP00000490797.1:n.*399C>A
ENST00000636286.1:n.308C>A
ENST00000636743.1:c.470C>A	ENSP00000489725.1:p.Pro157His
ENST00000636808.1:c.*399C>A	ENSP00000490833.1:n.*399C>A
ENST00000636872.1:c.750C>A	ENSP00000490919.1:n.750C>A
ENST00000636879.1:c.635C>A	ENSP00000490811.1:p.Pro212His
ENST00000636886.1:c.389C>A	ENSP00000490371.1:p.Pro130His
ENST00000637206.1:c.590C>A	ENSP00000489895.1:p.Pro197His
ENST00000637272.1:c.590C>A	ENSP00000489686.1:p.Pro197His
ENST00000637292.1:c.243C>A
ENST00000637782.1:c.590C>A	ENSP00000490024.1:p.Pro197His
ENST00000637964.1:c.536C>A	ENSP00000490291.1:p.Pro179His
ENST00000638008.1:c.*532C>A	ENSP00000490400.1:n.*532C>A
ENST00000409134.7:c.590C>A	ENSP00000387123.3:p.Pro197His
ENST00000413020.5:c.590C>A	ENSP00000487936.1:p.Pro197His
ENST00000433026.5:n.117C>A
ENST00000447989.6:c.671C>A	ENSP00000414132.2:p.Pro224His
ENST00000458249.5:c.750C>A	ENSP00000403929.1:n.750C>A
ENST00000503281.5:c.179C>A
ENST00000509459.5:c.138C>A
ENST00000510111.6:c.503C>A	ENSP00000447388.1:p.Pro168His
ENST00000511266.5:n.421C>A
ENST00000553117.5:c.590C>A	ENSP00000448593.1:p.Pro197His
NM_001182.4:c.590C>A	NP_001173.2:p.Pro197His
NM_001201377.1:c.506C>A	NP_001188306.1:p.Pro169His
NM_001202404.1:c.671C>A	NP_001189333.1:p.Pro224His
XM_011543417.1:c.185C>A	XP_011541719.1:p.Pro62His
XM_011543417.2:c.185C>A	XP_011541719.1:p.Pro62His
NM_001182.5:c.590C>A MANE Select	NP_001173.2:p.Pro197His
NM_001201377.2:c.506C>A	NP_001188306.1:p.Pro169His
NM_001202404.2:c.590C>A	NP_001189333.2:p.Pro197His