Canonical Allele Identifier: CA360730962

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912780A>T (hg19) ; chr5:g.126577088A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577088A>T , CM000667.2:g.126577088A>T	GRCh38
NC_000005.9:g.125912780A>T , CM000667.1:g.125912780A>T	GRCh37
NC_000005.8:g.125940679A>T	NCBI36
NG_008600.2:g.23303T>A
NG_008600.3:g.23303T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.641T>A MANE Select	ENSP00000387123.3:p.Val214Asp
ENST00000412186.2:c.517T>A	ENSP00000414536.2:n.517T>A
ENST00000413020.6:c.641T>A	ENSP00000487936.1:p.Val214Asp
ENST00000458249.6:c.*550T>A	ENSP00000403929.1:n.*550T>A
ENST00000503281.6:c.230T>A
ENST00000509270.2:c.575T>A	ENSP00000449318.2:p.Val192Asp
ENST00000509459.6:c.189T>A
ENST00000511266.6:n.1363T>A
ENST00000635851.1:c.639T>A
ENST00000636062.1:n.536T>A
ENST00000636225.1:c.*450T>A	ENSP00000490797.1:n.*450T>A
ENST00000636286.1:n.359T>A
ENST00000636743.1:c.521T>A	ENSP00000489725.1:p.Val174Asp
ENST00000636808.1:c.*450T>A	ENSP00000490833.1:n.*450T>A
ENST00000636872.1:c.801T>A	ENSP00000490919.1:n.801T>A
ENST00000636879.1:c.686T>A	ENSP00000490811.1:p.Val229Asp
ENST00000636886.1:c.440T>A	ENSP00000490371.1:p.Val147Asp
ENST00000637206.1:c.641T>A	ENSP00000489895.1:p.Val214Asp
ENST00000637272.1:c.641T>A	ENSP00000489686.1:p.Val214Asp
ENST00000637292.1:c.294T>A
ENST00000637782.1:c.641T>A	ENSP00000490024.1:p.Val214Asp
ENST00000637964.1:c.587T>A	ENSP00000490291.1:p.Val196Asp
ENST00000638008.1:c.*583T>A	ENSP00000490400.1:n.*583T>A
ENST00000409134.7:c.641T>A	ENSP00000387123.3:p.Val214Asp
ENST00000413020.5:c.641T>A	ENSP00000487936.1:p.Val214Asp
ENST00000433026.5:n.168T>A
ENST00000447989.6:c.722T>A	ENSP00000414132.2:p.Val241Asp
ENST00000458249.5:c.801T>A	ENSP00000403929.1:n.801T>A
ENST00000503281.5:c.230T>A
ENST00000509459.5:c.189T>A
ENST00000510111.6:c.554T>A	ENSP00000447388.1:p.Val185Asp
ENST00000511266.5:n.472T>A
ENST00000553117.5:c.641T>A	ENSP00000448593.1:p.Val214Asp
NM_001182.4:c.641T>A	NP_001173.2:p.Val214Asp
NM_001201377.1:c.557T>A	NP_001188306.1:p.Val186Asp
NM_001202404.1:c.722T>A	NP_001189333.1:p.Val241Asp
XM_011543417.1:c.236T>A	XP_011541719.1:p.Val79Asp
XM_011543417.2:c.236T>A	XP_011541719.1:p.Val79Asp
NM_001182.5:c.641T>A MANE Select	NP_001173.2:p.Val214Asp
NM_001201377.2:c.557T>A	NP_001188306.1:p.Val186Asp
NM_001202404.2:c.641T>A	NP_001189333.2:p.Val214Asp