Canonical Allele Identifier: CA3389719

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs765542228
• ExAC: 5:125912794 C / T
• gnomAD v2: 5-125912794-C-T
• MyVariant Identifiers: chr5:g.125912794C>T (hg19) ; chr5:g.126577102C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577102C>T , CM000667.2:g.126577102C>T	GRCh38
NC_000005.9:g.125912794C>T , CM000667.1:g.125912794C>T	GRCh37
NC_000005.8:g.125940693C>T	NCBI36
NG_008600.2:g.23289G>A
NG_008600.3:g.23289G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.627G>A MANE Select	ENSP00000387123.3:p.Met209Ile
ENST00000412186.2:c.503G>A	ENSP00000414536.2:n.503G>A
ENST00000413020.6:c.627G>A	ENSP00000487936.1:p.Met209Ile
ENST00000458249.6:c.*536G>A	ENSP00000403929.1:n.*536G>A
ENST00000503281.6:c.216G>A
ENST00000509270.2:c.561G>A	ENSP00000449318.2:p.Met187Ile
ENST00000509459.6:c.175G>A
ENST00000511266.6:n.1349G>A
ENST00000635851.1:c.625G>A
ENST00000636062.1:n.522G>A
ENST00000636225.1:c.*436G>A	ENSP00000490797.1:n.*436G>A
ENST00000636286.1:n.345G>A
ENST00000636743.1:c.507G>A	ENSP00000489725.1:p.Met169Ile
ENST00000636808.1:c.*436G>A	ENSP00000490833.1:n.*436G>A
ENST00000636872.1:c.787G>A	ENSP00000490919.1:n.787G>A
ENST00000636879.1:c.672G>A	ENSP00000490811.1:p.Met224Ile
ENST00000636886.1:c.426G>A	ENSP00000490371.1:p.Met142Ile
ENST00000637206.1:c.627G>A	ENSP00000489895.1:p.Met209Ile
ENST00000637272.1:c.627G>A	ENSP00000489686.1:p.Met209Ile
ENST00000637292.1:c.280G>A
ENST00000637782.1:c.627G>A	ENSP00000490024.1:p.Met209Ile
ENST00000637964.1:c.573G>A	ENSP00000490291.1:p.Met191Ile
ENST00000638008.1:c.*569G>A	ENSP00000490400.1:n.*569G>A
ENST00000409134.7:c.627G>A	ENSP00000387123.3:p.Met209Ile
ENST00000413020.5:c.627G>A	ENSP00000487936.1:p.Met209Ile
ENST00000433026.5:n.154G>A
ENST00000447989.6:c.708G>A	ENSP00000414132.2:p.Met236Ile
ENST00000458249.5:c.787G>A	ENSP00000403929.1:n.787G>A
ENST00000503281.5:c.216G>A
ENST00000509459.5:c.175G>A
ENST00000510111.6:c.540G>A	ENSP00000447388.1:p.Met180Ile
ENST00000511266.5:n.458G>A
ENST00000553117.5:c.627G>A	ENSP00000448593.1:p.Met209Ile
NM_001182.4:c.627G>A	NP_001173.2:p.Met209Ile
NM_001201377.1:c.543G>A	NP_001188306.1:p.Met181Ile
NM_001202404.1:c.708G>A	NP_001189333.1:p.Met236Ile
XM_011543417.1:c.222G>A	XP_011541719.1:p.Met74Ile
XM_011543417.2:c.222G>A	XP_011541719.1:p.Met74Ile
NM_001182.5:c.627G>A MANE Select	NP_001173.2:p.Met209Ile
NM_001201377.2:c.543G>A	NP_001188306.1:p.Met181Ile
NM_001202404.2:c.627G>A	NP_001189333.2:p.Met209Ile