Canonical Allele Identifier: CA5620102

Gene: ALDH18A1

Linked Data

• ClinVar Variation Id: 522897
• ClinVar RCV Id: RCV000626090 ; RCV003767836
• dbSNP Id: rs762271422
• ExAC: 10:97366676 G / C
• gnomAD v2: 10-97366676-G-C
• gnomAD v3: 10-95606919-G-C
• gnomAD v4: 10-95606919-G-C
• MyVariant Identifiers: chr10:g.97366676G>C (hg19) ; chr10:g.95606919G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95606919G>C , CM000672.2:g.95606919G>C	GRCh38
NC_000010.10:g.97366676G>C , CM000672.1:g.97366676G>C	GRCh37
NC_000010.9:g.97356666G>C	NCBI36
NG_012258.1:g.54892C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371224.7:c.2231C>G MANE Select	ENSP00000360268.2:p.Ser744Trp
ENST00000371221.3:c.2225C>G	ENSP00000360265.3:p.Ser742Trp
ENST00000371224.6:c.2231C>G	ENSP00000360268.2:p.Ser744Trp
NM_001017423.1:c.2225C>G	NP_001017423.1:p.Ser742Trp
NM_002860.3:c.2231C>G	NP_002851.2:p.Ser744Trp
XM_006717933.1:c.2231C>G	XP_006717996.1:p.Ser744Trp
XM_011540001.1:c.1898C>G	XP_011538303.1:p.Ser633Trp
NM_001323412.1:c.1898C>G	NP_001310341.1:p.Ser633Trp
NM_001323413.1:c.2231C>G	NP_001310342.1:p.Ser744Trp
NM_001323414.1:c.2231C>G	NP_001310343.1:p.Ser744Trp
NM_001323415.1:c.2225C>G	NP_001310344.1:p.Ser742Trp
NM_001323416.1:c.1898C>G	NP_001310345.1:p.Ser633Trp
NM_001323417.1:c.2126C>G	NP_001310346.1:p.Ser709Trp
NM_001323418.1:c.1892C>G	NP_001310347.1:p.Ser631Trp
NM_001323419.1:c.1595C>G	NP_001310348.1:p.Ser532Trp
XM_024448094.1:c.2333C>G	XP_024303862.1:p.Ser778Trp
XM_024448095.1:c.2333C>G	XP_024303863.1:p.Ser778Trp
XM_024448096.1:c.2327C>G	XP_024303864.1:p.Ser776Trp
XM_024448097.1:c.2000C>G	XP_024303865.1:p.Ser667Trp
NM_002860.4:c.2231C>G MANE Select	NP_002851.2:p.Ser744Trp
NM_001017423.2:c.2225C>G	NP_001017423.1:p.Ser742Trp
NM_001323412.2:c.1898C>G	NP_001310341.1:p.Ser633Trp
NM_001323413.2:c.2231C>G	NP_001310342.1:p.Ser744Trp
NM_001323414.2:c.2231C>G	NP_001310343.1:p.Ser744Trp
NM_001323415.2:c.2225C>G	NP_001310344.1:p.Ser742Trp
NM_001323416.2:c.1898C>G	NP_001310345.1:p.Ser633Trp
NM_001323417.2:c.2126C>G	NP_001310346.1:p.Ser709Trp
NM_001323418.2:c.1892C>G	NP_001310347.1:p.Ser631Trp
NM_001323419.2:c.1595C>G	NP_001310348.1:p.Ser532Trp