Canonical Allele Identifier: CA360718824

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125882024C>G (hg19) ; chr5:g.126546332C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546332C>G , CM000667.2:g.126546332C>G	GRCh38
NC_000005.9:g.125882024C>G , CM000667.1:g.125882024C>G	GRCh37
NC_000005.8:g.125909923C>G	NCBI36
NG_008600.2:g.54059G>C
NG_008600.3:g.54059G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1557G>C MANE Select	ENSP00000387123.3:p.Arg519Ser
ENST00000458249.6:c.*1466G>C	ENSP00000403929.1:n.*1466G>C
ENST00000485852.7:n.304G>C
ENST00000497231.7:n.1984G>C
ENST00000635851.1:c.1555G>C
ENST00000636286.1:n.1322G>C
ENST00000636482.1:n.1091G>C
ENST00000636743.1:c.1437G>C	ENSP00000489725.1:p.Arg479Ser
ENST00000636808.1:c.*1366G>C	ENSP00000490833.1:n.*1366G>C
ENST00000636872.1:c.1717G>C	ENSP00000490919.1:n.1717G>C
ENST00000636879.1:c.1602G>C	ENSP00000490811.1:p.Arg534Ser
ENST00000636886.1:c.1356G>C	ENSP00000490371.1:p.Arg452Ser
ENST00000637206.1:c.1377G>C	ENSP00000489895.1:p.Arg459Ser
ENST00000637272.1:c.1548G>C	ENSP00000489686.1:p.Arg516Ser
ENST00000637292.1:c.1013G>C
ENST00000637782.1:c.1557G>C	ENSP00000490024.1:p.Arg519Ser
ENST00000638008.1:c.*1401G>C	ENSP00000490400.1:n.*1401G>C
ENST00000638010.1:n.1503G>C
ENST00000409134.7:c.1557G>C	ENSP00000387123.3:p.Arg519Ser
ENST00000447989.6:c.1446G>C	ENSP00000414132.2:p.Arg482Ser
ENST00000485852.6:n.304G>C
ENST00000497231.6:n.1767G>C
ENST00000553117.5:c.1365G>C	ENSP00000448593.1:p.Arg455Ser
NM_001182.4:c.1557G>C	NP_001173.2:p.Arg519Ser
NM_001201377.1:c.1473G>C	NP_001188306.1:p.Arg491Ser
NM_001202404.1:c.1446G>C	NP_001189333.1:p.Arg482Ser
XM_011543417.1:c.1152G>C	XP_011541719.1:p.Arg384Ser
XM_011543417.2:c.1152G>C	XP_011541719.1:p.Arg384Ser
NM_001182.5:c.1557G>C MANE Select	NP_001173.2:p.Arg519Ser
NM_001201377.2:c.1473G>C	NP_001188306.1:p.Arg491Ser
NM_001202404.2:c.1365G>C	NP_001189333.2:p.Arg455Ser