Canonical Allele Identifier: CA347465

Gene: ALDH18A1

Linked Data

• ClinVar Variation Id: 217116
• ClinVar RCV Id: RCV000200956 ; RCV003389243
• dbSNP Id: rs864321669
• MyVariant Identifiers: chr10:g.97392797C>G (hg19) ; chr10:g.95633040C>G (hg38)
• PubMed: PMID:9973297 ; PMID:26297558

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95633040C>G , CM000672.2:g.95633040C>G	GRCh38
NC_000010.10:g.97392797C>G , CM000672.1:g.97392797C>G	GRCh37
NC_000010.9:g.97382787C>G	NCBI36
NG_012258.1:g.28771G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371224.7:c.727G>C MANE Select	ENSP00000360268.2:p.Val243Leu
ENST00000371221.3:c.721G>C	ENSP00000360265.3:p.Val241Leu
ENST00000371224.6:c.727G>C	ENSP00000360268.2:p.Val243Leu
NM_001017423.1:c.721G>C	NP_001017423.1:p.Val241Leu
NM_002860.3:c.727G>C	NP_002851.2:p.Val243Leu
XM_006717933.1:c.727G>C	XP_006717996.1:p.Val243Leu
XM_011540001.1:c.394G>C	XP_011538303.1:p.Val132Leu
NM_001323412.1:c.394G>C	NP_001310341.1:p.Val132Leu
NM_001323413.1:c.727G>C	NP_001310342.1:p.Val243Leu
NM_001323414.1:c.727G>C	NP_001310343.1:p.Val243Leu
NM_001323415.1:c.721G>C	NP_001310344.1:p.Val241Leu
NM_001323416.1:c.394G>C	NP_001310345.1:p.Val132Leu
NM_001323417.1:c.622G>C	NP_001310346.1:p.Val208Leu
NM_001323418.1:c.388G>C	NP_001310347.1:p.Val130Leu
NM_001323419.1:c.91G>C	NP_001310348.1:p.Val31Leu
XM_024448094.1:c.727G>C	XP_024303862.1:p.Val243Leu
XM_024448095.1:c.727G>C	XP_024303863.1:p.Val243Leu
XM_024448096.1:c.721G>C	XP_024303864.1:p.Val241Leu
XM_024448097.1:c.394G>C	XP_024303865.1:p.Val132Leu
NM_002860.4:c.727G>C MANE Select	NP_002851.2:p.Val243Leu
NM_001017423.2:c.721G>C	NP_001017423.1:p.Val241Leu
NM_001323412.2:c.394G>C	NP_001310341.1:p.Val132Leu
NM_001323413.2:c.727G>C	NP_001310342.1:p.Val243Leu
NM_001323414.2:c.727G>C	NP_001310343.1:p.Val243Leu
NM_001323415.2:c.721G>C	NP_001310344.1:p.Val241Leu
NM_001323416.2:c.394G>C	NP_001310345.1:p.Val132Leu
NM_001323417.2:c.622G>C	NP_001310346.1:p.Val208Leu
NM_001323418.2:c.388G>C	NP_001310347.1:p.Val130Leu
NM_001323419.2:c.91G>C	NP_001310348.1:p.Val31Leu