Canonical Allele Identifier: CA360723064

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125887759G>A (hg19) ; chr5:g.126552067G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552067G>A , CM000667.2:g.126552067G>A	GRCh38
NC_000005.9:g.125887759G>A , CM000667.1:g.125887759G>A	GRCh37
NC_000005.8:g.125915658G>A	NCBI36
NG_008600.2:g.48324C>T
NG_008600.3:g.48324C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1271C>T MANE Select	ENSP00000387123.3:p.Ala424Val
ENST00000458249.6:c.*1180C>T	ENSP00000403929.1:n.*1180C>T
ENST00000497231.7:n.1698C>T
ENST00000503281.6:c.860C>T
ENST00000635851.1:c.1269C>T
ENST00000636062.1:n.1166C>T
ENST00000636225.1:c.*1215C>T	ENSP00000490797.1:n.*1215C>T
ENST00000636286.1:n.989C>T
ENST00000636482.1:n.758C>T
ENST00000636743.1:c.1151C>T	ENSP00000489725.1:p.Ala384Val
ENST00000636808.1:c.*1080C>T	ENSP00000490833.1:n.*1080C>T
ENST00000636872.1:c.1431C>T	ENSP00000490919.1:n.1431C>T
ENST00000636879.1:c.1316C>T	ENSP00000490811.1:p.Ala439Val
ENST00000636886.1:c.1070C>T	ENSP00000490371.1:p.Ala357Val
ENST00000637206.1:c.1091C>T	ENSP00000489895.1:p.Ala364Val
ENST00000637272.1:c.1262C>T	ENSP00000489686.1:p.Ala421Val
ENST00000637292.1:c.774-1774C>T
ENST00000637782.1:c.1271C>T	ENSP00000490024.1:p.Ala424Val
ENST00000638008.1:c.*1115C>T	ENSP00000490400.1:n.*1115C>T
ENST00000638010.1:n.1217C>T
ENST00000409134.7:c.1271C>T	ENSP00000387123.3:p.Ala424Val
ENST00000447989.6:c.1160C>T	ENSP00000414132.2:p.Ala387Val
ENST00000476328.1:n.36C>T
ENST00000497231.6:n.1481C>T
ENST00000503281.5:c.860C>T
ENST00000553117.5:c.1079C>T	ENSP00000448593.1:p.Ala360Val
NM_001182.4:c.1271C>T	NP_001173.2:p.Ala424Val
NM_001201377.1:c.1187C>T	NP_001188306.1:p.Ala396Val
NM_001202404.1:c.1160C>T	NP_001189333.1:p.Ala387Val
XM_011543417.1:c.866C>T	XP_011541719.1:p.Ala289Val
XM_011543417.2:c.866C>T	XP_011541719.1:p.Ala289Val
NM_001182.5:c.1271C>T MANE Select	NP_001173.2:p.Ala424Val
NM_001201377.2:c.1187C>T	NP_001188306.1:p.Ala396Val
NM_001202404.2:c.1079C>T	NP_001189333.2:p.Ala360Val