Canonical Allele Identifier: CA360724475

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126555929A>G , CM000667.2:g.126555929A>G	GRCh38
NC_000005.9:g.125891621A>G , CM000667.1:g.125891621A>G	GRCh37
NC_000005.8:g.125919520A>G	NCBI36
NG_008600.2:g.44462T>C
NG_008600.3:g.44462T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1093+2T>C MANE Select	NP_001173.2:n.1093+2T>C
ENST00000409134.8:c.1093+2T>C MANE Select	ENSP00000387123.3:n.1093+2T>C
NM_001182.4:c.1093+2T>C	NP_001173.2:n.1093+2T>C
NM_001201377.1:c.1009+2T>C	NP_001188306.1:n.1009+2T>C
NM_001201377.2:c.1009+2T>C	NP_001188306.1:n.1009+2T>C
NM_001202404.1:c.1089+3311T>C	NP_001189333.1:n.1089+3311T>C
NM_001202404.2:c.1008+3311T>C	NP_001189333.2:n.1008+3311T>C
ENST00000409134.7:c.1093+2T>C	ENSP00000387123.3:n.1093+2T>C
ENST00000447989.6:c.1089+3311T>C	ENSP00000414132.2:n.1089+3311T>C
ENST00000458249.6:c.*1002+2T>C	ENSP00000403929.1:n.*1002+2T>C
ENST00000497231.6:n.1303+2T>C
ENST00000497231.7:n.1520+2T>C
ENST00000503281.5:c.682+2T>C
ENST00000503281.6:c.682+2T>C
ENST00000553117.5:c.1008+3311T>C	ENSP00000448593.1:n.1008+3311T>C
ENST00000635851.1:c.1091+2T>C
ENST00000636062.1:n.988+2T>C
ENST00000636225.1:c.*1037+2T>C	ENSP00000490797.1:n.*1037+2T>C
ENST00000636286.1:n.811+2T>C
ENST00000636482.1:n.580+2T>C
ENST00000636743.1:c.973+2T>C	ENSP00000489725.1:n.973+2T>C
ENST00000636808.1:c.*902+2T>C	ENSP00000490833.1:n.*902+2T>C
ENST00000636872.1:c.1253+2T>C	ENSP00000490919.1:n.1253+2T>C
ENST00000636879.1:c.1138+2T>C	ENSP00000490811.1:n.1138+2T>C
ENST00000636886.1:c.892+2T>C	ENSP00000490371.1:n.892+2T>C
ENST00000637206.1:c.914-1536T>C	ENSP00000489895.1:n.914-1536T>C
ENST00000637272.1:c.1084+2T>C	ENSP00000489686.1:n.1084+2T>C
ENST00000637292.1:c.666+2T>C
ENST00000637782.1:c.1093+2T>C	ENSP00000490024.1:n.1093+2T>C
ENST00000637964.1:c.1039+2T>C	ENSP00000490291.1:n.1039+2T>C
ENST00000638008.1:c.*937+2T>C	ENSP00000490400.1:n.*937+2T>C
XM_011543417.1:c.688+2T>C	XP_011541719.1:n.688+2T>C
XM_011543417.2:c.688+2T>C	XP_011541719.1:n.688+2T>C