Canonical Allele Identifier: CA3389467

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs774126237
• ExAC: 5:125887753 G / A
• gnomAD v2: 5-125887753-G-A
• gnomAD v3: 5-126552061-G-A
• gnomAD v4: 5-126552061-G-A
• MyVariant Identifiers: chr5:g.125887753G>A (hg19) ; chr5:g.126552061G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552061G>A , CM000667.2:g.126552061G>A	GRCh38
NC_000005.9:g.125887753G>A , CM000667.1:g.125887753G>A	GRCh37
NC_000005.8:g.125915652G>A	NCBI36
NG_008600.2:g.48330C>T
NG_008600.3:g.48330C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1277C>T MANE Select	ENSP00000387123.3:p.Thr426Ile
ENST00000458249.6:c.*1186C>T	ENSP00000403929.1:n.*1186C>T
ENST00000497231.7:n.1704C>T
ENST00000503281.6:c.866C>T
ENST00000635851.1:c.1275C>T
ENST00000636062.1:n.1172C>T
ENST00000636225.1:c.*1221C>T	ENSP00000490797.1:n.*1221C>T
ENST00000636286.1:n.995C>T
ENST00000636482.1:n.764C>T
ENST00000636743.1:c.1157C>T	ENSP00000489725.1:p.Thr386Ile
ENST00000636808.1:c.*1086C>T	ENSP00000490833.1:n.*1086C>T
ENST00000636872.1:c.1437C>T	ENSP00000490919.1:n.1437C>T
ENST00000636879.1:c.1322C>T	ENSP00000490811.1:p.Thr441Ile
ENST00000636886.1:c.1076C>T	ENSP00000490371.1:p.Thr359Ile
ENST00000637206.1:c.1097C>T	ENSP00000489895.1:p.Thr366Ile
ENST00000637272.1:c.1268C>T	ENSP00000489686.1:p.Thr423Ile
ENST00000637292.1:c.774-1768C>T
ENST00000637782.1:c.1277C>T	ENSP00000490024.1:p.Thr426Ile
ENST00000638008.1:c.*1121C>T	ENSP00000490400.1:n.*1121C>T
ENST00000638010.1:n.1223C>T
ENST00000409134.7:c.1277C>T	ENSP00000387123.3:p.Thr426Ile
ENST00000447989.6:c.1166C>T	ENSP00000414132.2:p.Thr389Ile
ENST00000476328.1:n.42C>T
ENST00000497231.6:n.1487C>T
ENST00000503281.5:c.866C>T
ENST00000553117.5:c.1085C>T	ENSP00000448593.1:p.Thr362Ile
NM_001182.4:c.1277C>T	NP_001173.2:p.Thr426Ile
NM_001201377.1:c.1193C>T	NP_001188306.1:p.Thr398Ile
NM_001202404.1:c.1166C>T	NP_001189333.1:p.Thr389Ile
XM_011543417.1:c.872C>T	XP_011541719.1:p.Thr291Ile
XM_011543417.2:c.872C>T	XP_011541719.1:p.Thr291Ile
NM_001182.5:c.1277C>T MANE Select	NP_001173.2:p.Thr426Ile
NM_001201377.2:c.1193C>T	NP_001188306.1:p.Thr398Ile
NM_001202404.2:c.1085C>T	NP_001189333.2:p.Thr362Ile