Canonical Allele Identifier: CA360723084

Gene: ALDH7A1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1268T>G MANE Select	ENSP00000387123.3:p.Ile423Ser
ENST00000458249.6:c.*1177T>G	ENSP00000403929.1:n.*1177T>G
ENST00000497231.7:n.1695T>G
ENST00000503281.6:c.857T>G
ENST00000635851.1:c.1266T>G
ENST00000636062.1:n.1163T>G
ENST00000636225.1:c.*1212T>G	ENSP00000490797.1:n.*1212T>G
ENST00000636286.1:n.986T>G
ENST00000636482.1:n.755T>G
ENST00000636743.1:c.1148T>G	ENSP00000489725.1:p.Ile383Ser
ENST00000636808.1:c.*1077T>G	ENSP00000490833.1:n.*1077T>G
ENST00000636872.1:c.1428T>G	ENSP00000490919.1:n.1428T>G
ENST00000636879.1:c.1313T>G	ENSP00000490811.1:p.Ile438Ser
ENST00000636886.1:c.1067T>G	ENSP00000490371.1:p.Ile356Ser
ENST00000637206.1:c.1088T>G	ENSP00000489895.1:p.Ile363Ser
ENST00000637272.1:c.1259T>G	ENSP00000489686.1:p.Ile420Ser
ENST00000637292.1:c.774-1777T>G
ENST00000637782.1:c.1268T>G	ENSP00000490024.1:p.Ile423Ser
ENST00000638008.1:c.*1112T>G	ENSP00000490400.1:n.*1112T>G
ENST00000638010.1:n.1214T>G
ENST00000409134.7:c.1268T>G	ENSP00000387123.3:p.Ile423Ser
ENST00000447989.6:c.1157T>G	ENSP00000414132.2:p.Ile386Ser
ENST00000476328.1:n.33T>G
ENST00000497231.6:n.1478T>G
ENST00000503281.5:c.857T>G
ENST00000553117.5:c.1076T>G	ENSP00000448593.1:p.Ile359Ser
NM_001182.4:c.1268T>G	NP_001173.2:p.Ile423Ser
NM_001201377.1:c.1184T>G	NP_001188306.1:p.Ile395Ser
NM_001202404.1:c.1157T>G	NP_001189333.1:p.Ile386Ser
XM_011543417.1:c.863T>G	XP_011541719.1:p.Ile288Ser
XM_011543417.2:c.863T>G	XP_011541719.1:p.Ile288Ser
NM_001182.5:c.1268T>G MANE Select	NP_001173.2:p.Ile423Ser
NM_001201377.2:c.1184T>G	NP_001188306.1:p.Ile395Ser
NM_001202404.2:c.1076T>G	NP_001189333.2:p.Ile359Ser