Canonical Allele Identifier: CA360723076

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126552069-A-C
• MyVariant Identifiers: chr5:g.125887761A>C (hg19) ; chr5:g.126552069A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552069A>C , CM000667.2:g.126552069A>C	GRCh38
NC_000005.9:g.125887761A>C , CM000667.1:g.125887761A>C	GRCh37
NC_000005.8:g.125915660A>C	NCBI36
NG_008600.2:g.48322T>G
NG_008600.3:g.48322T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1269T>G MANE Select	ENSP00000387123.3:p.Ile423Met
ENST00000458249.6:c.*1178T>G	ENSP00000403929.1:n.*1178T>G
ENST00000497231.7:n.1696T>G
ENST00000503281.6:c.858T>G
ENST00000635851.1:c.1267T>G
ENST00000636062.1:n.1164T>G
ENST00000636225.1:c.*1213T>G	ENSP00000490797.1:n.*1213T>G
ENST00000636286.1:n.987T>G
ENST00000636482.1:n.756T>G
ENST00000636743.1:c.1149T>G	ENSP00000489725.1:p.Ile383Met
ENST00000636808.1:c.*1078T>G	ENSP00000490833.1:n.*1078T>G
ENST00000636872.1:c.1429T>G	ENSP00000490919.1:n.1429T>G
ENST00000636879.1:c.1314T>G	ENSP00000490811.1:p.Ile438Met
ENST00000636886.1:c.1068T>G	ENSP00000490371.1:p.Ile356Met
ENST00000637206.1:c.1089T>G	ENSP00000489895.1:p.Ile363Met
ENST00000637272.1:c.1260T>G	ENSP00000489686.1:p.Ile420Met
ENST00000637292.1:c.774-1776T>G
ENST00000637782.1:c.1269T>G	ENSP00000490024.1:p.Ile423Met
ENST00000638008.1:c.*1113T>G	ENSP00000490400.1:n.*1113T>G
ENST00000638010.1:n.1215T>G
ENST00000409134.7:c.1269T>G	ENSP00000387123.3:p.Ile423Met
ENST00000447989.6:c.1158T>G	ENSP00000414132.2:p.Ile386Met
ENST00000476328.1:n.34T>G
ENST00000497231.6:n.1479T>G
ENST00000503281.5:c.858T>G
ENST00000553117.5:c.1077T>G	ENSP00000448593.1:p.Ile359Met
NM_001182.4:c.1269T>G	NP_001173.2:p.Ile423Met
NM_001201377.1:c.1185T>G	NP_001188306.1:p.Ile395Met
NM_001202404.1:c.1158T>G	NP_001189333.1:p.Ile386Met
XM_011543417.1:c.864T>G	XP_011541719.1:p.Ile288Met
XM_011543417.2:c.864T>G	XP_011541719.1:p.Ile288Met
NM_001182.5:c.1269T>G MANE Select	NP_001173.2:p.Ile423Met
NM_001201377.2:c.1185T>G	NP_001188306.1:p.Ile395Met
NM_001202404.2:c.1077T>G	NP_001189333.2:p.Ile359Met