Canonical Allele Identifier: CA360719380

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125882070C>G (hg19) ; chr5:g.126546378C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546378C>G , CM000667.2:g.126546378C>G	GRCh38
NC_000005.9:g.125882070C>G , CM000667.1:g.125882070C>G	GRCh37
NC_000005.8:g.125909969C>G	NCBI36
NG_008600.2:g.54013G>C
NG_008600.3:g.54013G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1511G>C MANE Select	ENSP00000387123.3:p.Gly504Ala
ENST00000458249.6:c.*1420G>C	ENSP00000403929.1:n.*1420G>C
ENST00000485852.7:n.258G>C
ENST00000497231.7:n.1938G>C
ENST00000635851.1:c.1509G>C
ENST00000636225.1:c.*1455G>C	ENSP00000490797.1:n.*1455G>C
ENST00000636286.1:n.1276G>C
ENST00000636482.1:n.1045G>C
ENST00000636743.1:c.1391G>C	ENSP00000489725.1:p.Gly464Ala
ENST00000636808.1:c.*1320G>C	ENSP00000490833.1:n.*1320G>C
ENST00000636872.1:c.1671G>C	ENSP00000490919.1:n.1671G>C
ENST00000636879.1:c.1556G>C	ENSP00000490811.1:p.Gly519Ala
ENST00000636886.1:c.1310G>C	ENSP00000490371.1:p.Gly437Ala
ENST00000637206.1:c.1331G>C	ENSP00000489895.1:p.Gly444Ala
ENST00000637272.1:c.1502G>C	ENSP00000489686.1:p.Gly501Ala
ENST00000637292.1:c.967G>C
ENST00000637782.1:c.1511G>C	ENSP00000490024.1:p.Gly504Ala
ENST00000638008.1:c.*1355G>C	ENSP00000490400.1:n.*1355G>C
ENST00000638010.1:n.1457G>C
ENST00000409134.7:c.1511G>C	ENSP00000387123.3:p.Gly504Ala
ENST00000447989.6:c.1400G>C	ENSP00000414132.2:p.Gly467Ala
ENST00000485852.6:n.258G>C
ENST00000497231.6:n.1721G>C
ENST00000553117.5:c.1319G>C	ENSP00000448593.1:p.Gly440Ala
NM_001182.4:c.1511G>C	NP_001173.2:p.Gly504Ala
NM_001201377.1:c.1427G>C	NP_001188306.1:p.Gly476Ala
NM_001202404.1:c.1400G>C	NP_001189333.1:p.Gly467Ala
XM_011543417.1:c.1106G>C	XP_011541719.1:p.Gly369Ala
XM_011543417.2:c.1106G>C	XP_011541719.1:p.Gly369Ala
NM_001182.5:c.1511G>C MANE Select	NP_001173.2:p.Gly504Ala
NM_001201377.2:c.1427G>C	NP_001188306.1:p.Gly476Ala
NM_001202404.2:c.1319G>C	NP_001189333.2:p.Gly440Ala