Canonical Allele Identifier: CA548147665

Gene: NAALADL2

Linked Data

• dbSNP Id: rs1192613571
• gnomAD v2: 3-174194246-T-C
• gnomAD v3: 3-174476456-T-C
• gnomAD v4: 3-174476456-T-C
• MyVariant Identifiers: chr3:g.174194246T>C (hg19) ; chr3:g.174476456T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.174476456T>C , CM000665.2:g.174476456T>C	GRCh38
NC_000003.11:g.174194246T>C , CM000665.1:g.174194246T>C	GRCh37
NC_000003.10:g.175676940T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000434257.1:c.-184+35424T>C	ENSP00000409858.1:n.-184+35424T>C
ENST00000481679.5:n.243+17144T>C
ENST00000482228.5:n.113+37771T>C
ENST00000489729.5:n.46+35424T>C
ENST00000491329.5:n.114-37053T>C
ENST00000495900.5:n.50+35424T>C
XM_006713560.2:c.-184+35424T>C	XP_006713623.1:n.-184+35424T>C
XM_006713560.3:c.-184+35424T>C	XP_006713623.1:n.-184+35424T>C
XM_017006075.2:c.-247+35424T>C	XP_016861564.1:n.-247+35424T>C
XM_017006077.2:c.-451+35424T>C	XP_016861566.1:n.-451+35424T>C
XM_017006078.2:c.-268+35424T>C	XP_016861567.1:n.-268+35424T>C
XM_017006080.2:c.-115+35424T>C	XP_016861569.1:n.-115+35424T>C
XM_017006082.2:c.-254+35424T>C	XP_016861571.1:n.-254+35424T>C