Canonical Allele Identifier: CA360717906

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880703T>G (hg19) ; chr5:g.126545011T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545011T>G , CM000667.2:g.126545011T>G	GRCh38
NC_000005.9:g.125880703T>G , CM000667.1:g.125880703T>G	GRCh37
NC_000005.8:g.125908602T>G	NCBI36
NG_008600.2:g.55380A>C
NG_008600.3:g.55380A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1574A>C MANE Select	ENSP00000387123.3:p.Asn525Thr
ENST00000458249.6:c.*1483A>C	ENSP00000403929.1:n.*1483A>C
ENST00000485852.7:n.321A>C
ENST00000497231.7:n.2001A>C
ENST00000635851.1:c.1563+1313A>C
ENST00000636286.1:n.1339A>C
ENST00000636482.1:n.1108A>C
ENST00000636743.1:c.1454A>C	ENSP00000489725.1:p.Asn485Thr
ENST00000636808.1:c.*1383A>C	ENSP00000490833.1:n.*1383A>C
ENST00000636872.1:c.1734A>C	ENSP00000490919.1:n.1734A>C
ENST00000636879.1:c.1619A>C	ENSP00000490811.1:p.Asn540Thr
ENST00000636886.1:c.1373A>C	ENSP00000490371.1:p.Asn458Thr
ENST00000637206.1:c.1394A>C	ENSP00000489895.1:p.Asn465Thr
ENST00000637272.1:c.1565A>C	ENSP00000489686.1:p.Asn522Thr
ENST00000637292.1:c.1030A>C
ENST00000637782.1:c.1565+1313A>C	ENSP00000490024.1:n.1565+1313A>C
ENST00000638008.1:c.*1418A>C	ENSP00000490400.1:n.*1418A>C
ENST00000638010.1:n.1520A>C
ENST00000409134.7:c.1574A>C	ENSP00000387123.3:p.Asn525Thr
ENST00000447989.6:c.1463A>C	ENSP00000414132.2:p.Asn488Thr
ENST00000485852.6:n.321A>C
ENST00000497231.6:n.1784A>C
ENST00000553117.5:c.1382A>C	ENSP00000448593.1:p.Asn461Thr
NM_001182.4:c.1574A>C	NP_001173.2:p.Asn525Thr
NM_001201377.1:c.1490A>C	NP_001188306.1:p.Asn497Thr
NM_001202404.1:c.1463A>C	NP_001189333.1:p.Asn488Thr
XM_011543417.1:c.1169A>C	XP_011541719.1:p.Asn390Thr
XM_011543417.2:c.1169A>C	XP_011541719.1:p.Asn390Thr
NM_001182.5:c.1574A>C MANE Select	NP_001173.2:p.Asn525Thr
NM_001201377.2:c.1490A>C	NP_001188306.1:p.Asn497Thr
NM_001202404.2:c.1382A>C	NP_001189333.2:p.Asn461Thr