Canonical Allele Identifier: CA5620181

Gene: ALDH18A1

Linked Data

• ClinVar Variation Id: 441102
• ClinVar RCV Id: RCV000509302
• dbSNP Id: rs768964431
• ExAC: 10:97371181 G / A
• gnomAD v2: 10-97371181-G-A
• gnomAD v4: 10-95611424-G-A
• MyVariant Identifiers: chr10:g.97371181G>A (hg19) ; chr10:g.95611424G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95611424G>A , CM000672.2:g.95611424G>A	GRCh38
NC_000010.10:g.97371181G>A , CM000672.1:g.97371181G>A	GRCh37
NC_000010.9:g.97361171G>A	NCBI36
NG_012258.1:g.50387C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371224.7:c.1942C>T MANE Select	ENSP00000360268.2:p.Pro648Ser
ENST00000371221.3:c.1936C>T	ENSP00000360265.3:p.Pro646Ser
ENST00000371224.6:c.1942C>T	ENSP00000360268.2:p.Pro648Ser
ENST00000485428.1:n.558C>T
NM_001017423.1:c.1936C>T	NP_001017423.1:p.Pro646Ser
NM_002860.3:c.1942C>T	NP_002851.2:p.Pro648Ser
XM_006717933.1:c.1942C>T	XP_006717996.1:p.Pro648Ser
XM_011540001.1:c.1609C>T	XP_011538303.1:p.Pro537Ser
NM_001323412.1:c.1609C>T	NP_001310341.1:p.Pro537Ser
NM_001323413.1:c.1942C>T	NP_001310342.1:p.Pro648Ser
NM_001323414.1:c.1942C>T	NP_001310343.1:p.Pro648Ser
NM_001323415.1:c.1936C>T	NP_001310344.1:p.Pro646Ser
NM_001323416.1:c.1609C>T	NP_001310345.1:p.Pro537Ser
NM_001323417.1:c.1837C>T	NP_001310346.1:p.Pro613Ser
NM_001323418.1:c.1603C>T	NP_001310347.1:p.Pro535Ser
NM_001323419.1:c.1306C>T	NP_001310348.1:p.Pro436Ser
XM_024448094.1:c.2044C>T	XP_024303862.1:p.Pro682Ser
XM_024448095.1:c.2044C>T	XP_024303863.1:p.Pro682Ser
XM_024448096.1:c.2038C>T	XP_024303864.1:p.Pro680Ser
XM_024448097.1:c.1711C>T	XP_024303865.1:p.Pro571Ser
NM_002860.4:c.1942C>T MANE Select	NP_002851.2:p.Pro648Ser
NM_001017423.2:c.1936C>T	NP_001017423.1:p.Pro646Ser
NM_001323412.2:c.1609C>T	NP_001310341.1:p.Pro537Ser
NM_001323413.2:c.1942C>T	NP_001310342.1:p.Pro648Ser
NM_001323414.2:c.1942C>T	NP_001310343.1:p.Pro648Ser
NM_001323415.2:c.1936C>T	NP_001310344.1:p.Pro646Ser
NM_001323416.2:c.1609C>T	NP_001310345.1:p.Pro537Ser
NM_001323417.2:c.1837C>T	NP_001310346.1:p.Pro613Ser
NM_001323418.2:c.1603C>T	NP_001310347.1:p.Pro535Ser
NM_001323419.2:c.1306C>T	NP_001310348.1:p.Pro436Ser