Canonical Allele Identifier: CA2675067913

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126551977-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126551977T>C , CM000667.2:g.126551977T>C	GRCh38
NC_000005.9:g.125887669T>C , CM000667.1:g.125887669T>C	GRCh37
NC_000005.8:g.125915568T>C	NCBI36
NG_008600.2:g.48414A>G
NG_008600.3:g.48414A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1317+44A>G MANE Select	ENSP00000387123.3:n.1317+44A>G
ENST00000458249.6:c.*1226+44A>G	ENSP00000403929.1:n.*1226+44A>G
ENST00000497231.7:n.1744+44A>G
ENST00000503281.6:c.906+44A>G
ENST00000635851.1:c.1315+44A>G
ENST00000636062.1:n.1212+44A>G
ENST00000636225.1:c.*1261+44A>G	ENSP00000490797.1:n.*1261+44A>G
ENST00000636286.1:n.1035+44A>G
ENST00000636482.1:n.804+44A>G
ENST00000636743.1:c.1197+44A>G	ENSP00000489725.1:n.1197+44A>G
ENST00000636808.1:c.*1126+44A>G	ENSP00000490833.1:n.*1126+44A>G
ENST00000636872.1:c.1477+44A>G	ENSP00000490919.1:n.1477+44A>G
ENST00000636879.1:c.1362+44A>G	ENSP00000490811.1:n.1362+44A>G
ENST00000636886.1:c.1116+44A>G	ENSP00000490371.1:n.1116+44A>G
ENST00000637206.1:c.1137+44A>G	ENSP00000489895.1:n.1137+44A>G
ENST00000637272.1:c.1308+44A>G	ENSP00000489686.1:n.1308+44A>G
ENST00000637292.1:c.774-1684A>G
ENST00000637782.1:c.1317+44A>G	ENSP00000490024.1:n.1317+44A>G
ENST00000638008.1:c.*1161+44A>G	ENSP00000490400.1:n.*1161+44A>G
ENST00000638010.1:n.1263+44A>G
ENST00000409134.7:c.1317+44A>G	ENSP00000387123.3:n.1317+44A>G
ENST00000447989.6:c.1206+44A>G	ENSP00000414132.2:n.1206+44A>G
ENST00000476328.1:n.82+44A>G
ENST00000497231.6:n.1527+44A>G
ENST00000553117.5:c.1125+44A>G	ENSP00000448593.1:n.1125+44A>G
NM_001182.4:c.1317+44A>G	NP_001173.2:n.1317+44A>G
NM_001201377.1:c.1233+44A>G	NP_001188306.1:n.1233+44A>G
NM_001202404.1:c.1206+44A>G	NP_001189333.1:n.1206+44A>G
XM_011543417.1:c.912+44A>G	XP_011541719.1:n.912+44A>G
XM_011543417.2:c.912+44A>G	XP_011541719.1:n.912+44A>G
NM_001182.5:c.1317+44A>G MANE Select	NP_001173.2:n.1317+44A>G
NM_001201377.2:c.1233+44A>G	NP_001188306.1:n.1233+44A>G
NM_001202404.2:c.1125+44A>G	NP_001189333.2:n.1125+44A>G