Canonical Allele Identifier: CA360723067

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126552067-G-C
• MyVariant Identifiers: chr5:g.125887759G>C (hg19) ; chr5:g.126552067G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552067G>C , CM000667.2:g.126552067G>C	GRCh38
NC_000005.9:g.125887759G>C , CM000667.1:g.125887759G>C	GRCh37
NC_000005.8:g.125915658G>C	NCBI36
NG_008600.2:g.48324C>G
NG_008600.3:g.48324C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1271C>G MANE Select	ENSP00000387123.3:p.Ala424Gly
ENST00000458249.6:c.*1180C>G	ENSP00000403929.1:n.*1180C>G
ENST00000497231.7:n.1698C>G
ENST00000503281.6:c.860C>G
ENST00000635851.1:c.1269C>G
ENST00000636062.1:n.1166C>G
ENST00000636225.1:c.*1215C>G	ENSP00000490797.1:n.*1215C>G
ENST00000636286.1:n.989C>G
ENST00000636482.1:n.758C>G
ENST00000636743.1:c.1151C>G	ENSP00000489725.1:p.Ala384Gly
ENST00000636808.1:c.*1080C>G	ENSP00000490833.1:n.*1080C>G
ENST00000636872.1:c.1431C>G	ENSP00000490919.1:n.1431C>G
ENST00000636879.1:c.1316C>G	ENSP00000490811.1:p.Ala439Gly
ENST00000636886.1:c.1070C>G	ENSP00000490371.1:p.Ala357Gly
ENST00000637206.1:c.1091C>G	ENSP00000489895.1:p.Ala364Gly
ENST00000637272.1:c.1262C>G	ENSP00000489686.1:p.Ala421Gly
ENST00000637292.1:c.774-1774C>G
ENST00000637782.1:c.1271C>G	ENSP00000490024.1:p.Ala424Gly
ENST00000638008.1:c.*1115C>G	ENSP00000490400.1:n.*1115C>G
ENST00000638010.1:n.1217C>G
ENST00000409134.7:c.1271C>G	ENSP00000387123.3:p.Ala424Gly
ENST00000447989.6:c.1160C>G	ENSP00000414132.2:p.Ala387Gly
ENST00000476328.1:n.36C>G
ENST00000497231.6:n.1481C>G
ENST00000503281.5:c.860C>G
ENST00000553117.5:c.1079C>G	ENSP00000448593.1:p.Ala360Gly
NM_001182.4:c.1271C>G	NP_001173.2:p.Ala424Gly
NM_001201377.1:c.1187C>G	NP_001188306.1:p.Ala396Gly
NM_001202404.1:c.1160C>G	NP_001189333.1:p.Ala387Gly
XM_011543417.1:c.866C>G	XP_011541719.1:p.Ala289Gly
XM_011543417.2:c.866C>G	XP_011541719.1:p.Ala289Gly
NM_001182.5:c.1271C>G MANE Select	NP_001173.2:p.Ala424Gly
NM_001201377.2:c.1187C>G	NP_001188306.1:p.Ala396Gly
NM_001202404.2:c.1079C>G	NP_001189333.2:p.Ala360Gly