Canonical Allele Identifier: CA360723079

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125887762A>T (hg19) ; chr5:g.126552070A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552070A>T , CM000667.2:g.126552070A>T	GRCh38
NC_000005.9:g.125887762A>T , CM000667.1:g.125887762A>T	GRCh37
NC_000005.8:g.125915661A>T	NCBI36
NG_008600.2:g.48321T>A
NG_008600.3:g.48321T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1268T>A MANE Select	ENSP00000387123.3:p.Ile423Asn
ENST00000458249.6:c.*1177T>A	ENSP00000403929.1:n.*1177T>A
ENST00000497231.7:n.1695T>A
ENST00000503281.6:c.857T>A
ENST00000635851.1:c.1266T>A
ENST00000636062.1:n.1163T>A
ENST00000636225.1:c.*1212T>A	ENSP00000490797.1:n.*1212T>A
ENST00000636286.1:n.986T>A
ENST00000636482.1:n.755T>A
ENST00000636743.1:c.1148T>A	ENSP00000489725.1:p.Ile383Asn
ENST00000636808.1:c.*1077T>A	ENSP00000490833.1:n.*1077T>A
ENST00000636872.1:c.1428T>A	ENSP00000490919.1:n.1428T>A
ENST00000636879.1:c.1313T>A	ENSP00000490811.1:p.Ile438Asn
ENST00000636886.1:c.1067T>A	ENSP00000490371.1:p.Ile356Asn
ENST00000637206.1:c.1088T>A	ENSP00000489895.1:p.Ile363Asn
ENST00000637272.1:c.1259T>A	ENSP00000489686.1:p.Ile420Asn
ENST00000637292.1:c.774-1777T>A
ENST00000637782.1:c.1268T>A	ENSP00000490024.1:p.Ile423Asn
ENST00000638008.1:c.*1112T>A	ENSP00000490400.1:n.*1112T>A
ENST00000638010.1:n.1214T>A
ENST00000409134.7:c.1268T>A	ENSP00000387123.3:p.Ile423Asn
ENST00000447989.6:c.1157T>A	ENSP00000414132.2:p.Ile386Asn
ENST00000476328.1:n.33T>A
ENST00000497231.6:n.1478T>A
ENST00000503281.5:c.857T>A
ENST00000553117.5:c.1076T>A	ENSP00000448593.1:p.Ile359Asn
NM_001182.4:c.1268T>A	NP_001173.2:p.Ile423Asn
NM_001201377.1:c.1184T>A	NP_001188306.1:p.Ile395Asn
NM_001202404.1:c.1157T>A	NP_001189333.1:p.Ile386Asn
XM_011543417.1:c.863T>A	XP_011541719.1:p.Ile288Asn
XM_011543417.2:c.863T>A	XP_011541719.1:p.Ile288Asn
NM_001182.5:c.1268T>A MANE Select	NP_001173.2:p.Ile423Asn
NM_001201377.2:c.1184T>A	NP_001188306.1:p.Ile395Asn
NM_001202404.2:c.1076T>A	NP_001189333.2:p.Ile359Asn