Canonical Allele Identifier: CA360717894

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880701A>G (hg19) ; chr5:g.126545009A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545009A>G , CM000667.2:g.126545009A>G	GRCh38
NC_000005.9:g.125880701A>G , CM000667.1:g.125880701A>G	GRCh37
NC_000005.8:g.125908600A>G	NCBI36
NG_008600.2:g.55382T>C
NG_008600.3:g.55382T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1576T>C MANE Select	ENSP00000387123.3:p.Tyr526His
ENST00000458249.6:c.*1485T>C	ENSP00000403929.1:n.*1485T>C
ENST00000485852.7:n.323T>C
ENST00000497231.7:n.2003T>C
ENST00000635851.1:c.1563+1315T>C
ENST00000636286.1:n.1341T>C
ENST00000636482.1:n.1110T>C
ENST00000636743.1:c.1456T>C	ENSP00000489725.1:p.Tyr486His
ENST00000636808.1:c.*1385T>C	ENSP00000490833.1:n.*1385T>C
ENST00000636872.1:c.1736T>C	ENSP00000490919.1:n.1736T>C
ENST00000636879.1:c.1621T>C	ENSP00000490811.1:p.Tyr541His
ENST00000636886.1:c.1375T>C	ENSP00000490371.1:p.Tyr459His
ENST00000637206.1:c.1396T>C	ENSP00000489895.1:p.Tyr466His
ENST00000637272.1:c.1567T>C	ENSP00000489686.1:p.Tyr523His
ENST00000637292.1:c.1032T>C
ENST00000637782.1:c.1565+1315T>C	ENSP00000490024.1:n.1565+1315T>C
ENST00000638008.1:c.*1420T>C	ENSP00000490400.1:n.*1420T>C
ENST00000638010.1:n.1522T>C
ENST00000409134.7:c.1576T>C	ENSP00000387123.3:p.Tyr526His
ENST00000447989.6:c.1465T>C	ENSP00000414132.2:p.Tyr489His
ENST00000485852.6:n.323T>C
ENST00000497231.6:n.1786T>C
ENST00000553117.5:c.1384T>C	ENSP00000448593.1:p.Tyr462His
NM_001182.4:c.1576T>C	NP_001173.2:p.Tyr526His
NM_001201377.1:c.1492T>C	NP_001188306.1:p.Tyr498His
NM_001202404.1:c.1465T>C	NP_001189333.1:p.Tyr489His
XM_011543417.1:c.1171T>C	XP_011541719.1:p.Tyr391His
XM_011543417.2:c.1171T>C	XP_011541719.1:p.Tyr391His
NM_001182.5:c.1576T>C MANE Select	NP_001173.2:p.Tyr526His
NM_001201377.2:c.1492T>C	NP_001188306.1:p.Tyr498His
NM_001202404.2:c.1384T>C	NP_001189333.2:p.Tyr462His