Canonical Allele Identifier: CA360731039

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912801A>C (hg19) ; chr5:g.126577109A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577109A>C , CM000667.2:g.126577109A>C	GRCh38
NC_000005.9:g.125912801A>C , CM000667.1:g.125912801A>C	GRCh37
NC_000005.8:g.125940700A>C	NCBI36
NG_008600.2:g.23282T>G
NG_008600.3:g.23282T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.620T>G MANE Select	ENSP00000387123.3:p.Ile207Ser
ENST00000412186.2:c.496T>G	ENSP00000414536.2:n.496T>G
ENST00000413020.6:c.620T>G	ENSP00000487936.1:p.Ile207Ser
ENST00000458249.6:c.*529T>G	ENSP00000403929.1:n.*529T>G
ENST00000503281.6:c.209T>G
ENST00000509270.2:c.554T>G	ENSP00000449318.2:p.Ile185Ser
ENST00000509459.6:c.168T>G
ENST00000511266.6:n.1342T>G
ENST00000635851.1:c.618T>G
ENST00000636062.1:n.515T>G
ENST00000636225.1:c.*429T>G	ENSP00000490797.1:n.*429T>G
ENST00000636286.1:n.338T>G
ENST00000636743.1:c.500T>G	ENSP00000489725.1:p.Ile167Ser
ENST00000636808.1:c.*429T>G	ENSP00000490833.1:n.*429T>G
ENST00000636872.1:c.780T>G	ENSP00000490919.1:n.780T>G
ENST00000636879.1:c.665T>G	ENSP00000490811.1:p.Ile222Ser
ENST00000636886.1:c.419T>G	ENSP00000490371.1:p.Ile140Ser
ENST00000637206.1:c.620T>G	ENSP00000489895.1:p.Ile207Ser
ENST00000637272.1:c.620T>G	ENSP00000489686.1:p.Ile207Ser
ENST00000637292.1:c.273T>G
ENST00000637782.1:c.620T>G	ENSP00000490024.1:p.Ile207Ser
ENST00000637964.1:c.566T>G	ENSP00000490291.1:p.Ile189Ser
ENST00000638008.1:c.*562T>G	ENSP00000490400.1:n.*562T>G
ENST00000409134.7:c.620T>G	ENSP00000387123.3:p.Ile207Ser
ENST00000413020.5:c.620T>G	ENSP00000487936.1:p.Ile207Ser
ENST00000433026.5:n.147T>G
ENST00000447989.6:c.701T>G	ENSP00000414132.2:p.Ile234Ser
ENST00000458249.5:c.780T>G	ENSP00000403929.1:n.780T>G
ENST00000503281.5:c.209T>G
ENST00000509459.5:c.168T>G
ENST00000510111.6:c.533T>G	ENSP00000447388.1:p.Ile178Ser
ENST00000511266.5:n.451T>G
ENST00000553117.5:c.620T>G	ENSP00000448593.1:p.Ile207Ser
NM_001182.4:c.620T>G	NP_001173.2:p.Ile207Ser
NM_001201377.1:c.536T>G	NP_001188306.1:p.Ile179Ser
NM_001202404.1:c.701T>G	NP_001189333.1:p.Ile234Ser
XM_011543417.1:c.215T>G	XP_011541719.1:p.Ile72Ser
XM_011543417.2:c.215T>G	XP_011541719.1:p.Ile72Ser
NM_001182.5:c.620T>G MANE Select	NP_001173.2:p.Ile207Ser
NM_001201377.2:c.536T>G	NP_001188306.1:p.Ile179Ser
NM_001202404.2:c.620T>G	NP_001189333.2:p.Ile207Ser