Canonical Allele Identifier: CA126886563

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1028110490
• MyVariant Identifiers: chr5:g.125887717A>G (hg19) ; chr5:g.126552025A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552025A>G , CM000667.2:g.126552025A>G	GRCh38
NC_000005.9:g.125887717A>G , CM000667.1:g.125887717A>G	GRCh37
NC_000005.8:g.125915616A>G	NCBI36
NG_008600.2:g.48366T>C
NG_008600.3:g.48366T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1313T>C MANE Select	ENSP00000387123.3:p.Phe438Ser
ENST00000458249.6:c.*1222T>C	ENSP00000403929.1:n.*1222T>C
ENST00000497231.7:n.1740T>C
ENST00000503281.6:c.902T>C
ENST00000635851.1:c.1311T>C
ENST00000636062.1:n.1208T>C
ENST00000636225.1:c.*1257T>C	ENSP00000490797.1:n.*1257T>C
ENST00000636286.1:n.1031T>C
ENST00000636482.1:n.800T>C
ENST00000636743.1:c.1193T>C	ENSP00000489725.1:p.Phe398Ser
ENST00000636808.1:c.*1122T>C	ENSP00000490833.1:n.*1122T>C
ENST00000636872.1:c.1473T>C	ENSP00000490919.1:n.1473T>C
ENST00000636879.1:c.1358T>C	ENSP00000490811.1:p.Phe453Ser
ENST00000636886.1:c.1112T>C	ENSP00000490371.1:p.Phe371Ser
ENST00000637206.1:c.1133T>C	ENSP00000489895.1:p.Phe378Ser
ENST00000637272.1:c.1304T>C	ENSP00000489686.1:p.Phe435Ser
ENST00000637292.1:c.774-1732T>C
ENST00000637782.1:c.1313T>C	ENSP00000490024.1:p.Phe438Ser
ENST00000638008.1:c.*1157T>C	ENSP00000490400.1:n.*1157T>C
ENST00000638010.1:n.1259T>C
ENST00000409134.7:c.1313T>C	ENSP00000387123.3:p.Phe438Ser
ENST00000447989.6:c.1202T>C	ENSP00000414132.2:p.Phe401Ser
ENST00000476328.1:n.78T>C
ENST00000497231.6:n.1523T>C
ENST00000503281.5:c.902T>C
ENST00000553117.5:c.1121T>C	ENSP00000448593.1:p.Phe374Ser
NM_001182.4:c.1313T>C	NP_001173.2:p.Phe438Ser
NM_001201377.1:c.1229T>C	NP_001188306.1:p.Phe410Ser
NM_001202404.1:c.1202T>C	NP_001189333.1:p.Phe401Ser
XM_011543417.1:c.908T>C	XP_011541719.1:p.Phe303Ser
XM_011543417.2:c.908T>C	XP_011541719.1:p.Phe303Ser
NM_001182.5:c.1313T>C MANE Select	NP_001173.2:p.Phe438Ser
NM_001201377.2:c.1229T>C	NP_001188306.1:p.Phe410Ser
NM_001202404.2:c.1121T>C	NP_001189333.2:p.Phe374Ser