Canonical Allele Identifier: CA360718802

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs755930241
• gnomAD v2: 5-125882020-T-G
• gnomAD v4: 5-126546328-T-G
• MyVariant Identifiers: chr5:g.125882020T>G (hg19) ; chr5:g.126546328T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546328T>G , CM000667.2:g.126546328T>G	GRCh38
NC_000005.9:g.125882020T>G , CM000667.1:g.125882020T>G	GRCh37
NC_000005.8:g.125909919T>G	NCBI36
NG_008600.2:g.54063A>C
NG_008600.3:g.54063A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1561A>C MANE Select	ENSP00000387123.3:p.Thr521Pro
ENST00000458249.6:c.*1470A>C	ENSP00000403929.1:n.*1470A>C
ENST00000485852.7:n.308A>C
ENST00000497231.7:n.1988A>C
ENST00000635851.1:c.1559A>C
ENST00000636286.1:n.1326A>C
ENST00000636482.1:n.1095A>C
ENST00000636743.1:c.1441A>C	ENSP00000489725.1:p.Thr481Pro
ENST00000636808.1:c.*1370A>C	ENSP00000490833.1:n.*1370A>C
ENST00000636872.1:c.1721A>C	ENSP00000490919.1:n.1721A>C
ENST00000636879.1:c.1606A>C	ENSP00000490811.1:p.Thr536Pro
ENST00000636886.1:c.1360A>C	ENSP00000490371.1:p.Thr454Pro
ENST00000637206.1:c.1381A>C	ENSP00000489895.1:p.Thr461Pro
ENST00000637272.1:c.1552A>C	ENSP00000489686.1:p.Thr518Pro
ENST00000637292.1:c.1017A>C
ENST00000637782.1:c.1561A>C	ENSP00000490024.1:p.Thr521Pro
ENST00000638008.1:c.*1405A>C	ENSP00000490400.1:n.*1405A>C
ENST00000638010.1:n.1507A>C
ENST00000409134.7:c.1561A>C	ENSP00000387123.3:p.Thr521Pro
ENST00000447989.6:c.1450A>C	ENSP00000414132.2:p.Thr484Pro
ENST00000485852.6:n.308A>C
ENST00000497231.6:n.1771A>C
ENST00000553117.5:c.1369A>C	ENSP00000448593.1:p.Thr457Pro
NM_001182.4:c.1561A>C	NP_001173.2:p.Thr521Pro
NM_001201377.1:c.1477A>C	NP_001188306.1:p.Thr493Pro
NM_001202404.1:c.1450A>C	NP_001189333.1:p.Thr484Pro
XM_011543417.1:c.1156A>C	XP_011541719.1:p.Thr386Pro
XM_011543417.2:c.1156A>C	XP_011541719.1:p.Thr386Pro
NM_001182.5:c.1561A>C MANE Select	NP_001173.2:p.Thr521Pro
NM_001201377.2:c.1477A>C	NP_001188306.1:p.Thr493Pro
NM_001202404.2:c.1369A>C	NP_001189333.2:p.Thr457Pro