Canonical Allele Identifier: CA360721130

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125885677C>G (hg19) ; chr5:g.126549985C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126549985C>G , CM000667.2:g.126549985C>G	GRCh38
NC_000005.9:g.125885677C>G , CM000667.1:g.125885677C>G	GRCh37
NC_000005.8:g.125913576C>G	NCBI36
NG_008600.2:g.50406G>C
NG_008600.3:g.50406G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1433G>C MANE Select	ENSP00000387123.3:p.Cys478Ser
ENST00000458249.6:c.*1342G>C	ENSP00000403929.1:n.*1342G>C
ENST00000485852.7:n.180G>C
ENST00000497231.7:n.1860G>C
ENST00000635851.1:c.1431G>C
ENST00000636062.1:n.1328G>C
ENST00000636225.1:c.*1377G>C	ENSP00000490797.1:n.*1377G>C
ENST00000636286.1:n.1198G>C
ENST00000636482.1:n.967G>C
ENST00000636743.1:c.1313G>C	ENSP00000489725.1:p.Cys438Ser
ENST00000636808.1:c.*1242G>C	ENSP00000490833.1:n.*1242G>C
ENST00000636872.1:c.1593G>C	ENSP00000490919.1:n.1593G>C
ENST00000636879.1:c.1478G>C	ENSP00000490811.1:p.Cys493Ser
ENST00000636886.1:c.1232G>C	ENSP00000490371.1:p.Cys411Ser
ENST00000637206.1:c.1253G>C	ENSP00000489895.1:p.Cys418Ser
ENST00000637272.1:c.1424G>C	ENSP00000489686.1:p.Cys475Ser
ENST00000637292.1:c.889G>C
ENST00000637782.1:c.1433G>C	ENSP00000490024.1:p.Cys478Ser
ENST00000638008.1:c.*1277G>C	ENSP00000490400.1:n.*1277G>C
ENST00000638010.1:n.1379G>C
ENST00000409134.7:c.1433G>C	ENSP00000387123.3:p.Cys478Ser
ENST00000447989.6:c.1322G>C	ENSP00000414132.2:p.Cys441Ser
ENST00000476328.1:n.391G>C
ENST00000485852.6:n.180G>C
ENST00000497231.6:n.1643G>C
ENST00000553117.5:c.1241G>C	ENSP00000448593.1:p.Cys414Ser
NM_001182.4:c.1433G>C	NP_001173.2:p.Cys478Ser
NM_001201377.1:c.1349G>C	NP_001188306.1:p.Cys450Ser
NM_001202404.1:c.1322G>C	NP_001189333.1:p.Cys441Ser
XM_011543417.1:c.1028G>C	XP_011541719.1:p.Cys343Ser
XM_011543417.2:c.1028G>C	XP_011541719.1:p.Cys343Ser
NM_001182.5:c.1433G>C MANE Select	NP_001173.2:p.Cys478Ser
NM_001201377.2:c.1349G>C	NP_001188306.1:p.Cys450Ser
NM_001202404.2:c.1241G>C	NP_001189333.2:p.Cys414Ser