Canonical Allele Identifier: CA505782637
Gene: NACC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1600519
ClinVar RCV Id: RCV002118060
dbSNP Id: rs1343435538
gnomAD v2: 19-13246618-C-T
gnomAD v3: 19-13135804-C-T
gnomAD v4: 19-13135804-C-T
MyVariant Identifiers: chr19:g.13246618C>T (hg19) chr19:g.13135804C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13135804C>T , CM000681.2:g.13135804C>T GRCh38
NC_000019.9:g.13246618C>T , CM000681.1:g.13246618C>T GRCh37
NC_000019.8:g.13107618C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586171.3:c.597C>T ENSP00000467120.2:p.Gly199=
ENST00000700232.1:c.597C>T ENSP00000514870.1:p.Gly199=
ENST00000292431.5:c.597C>T MANE Select ENSP00000292431.3:p.Gly199=
ENST00000292431.4:c.597C>T ENSP00000292431.3:p.Gly199=
NM_052876.3:c.597C>T NP_443108.1:p.Gly199=
XM_005259721.2:c.597C>T XP_005259778.1:p.Gly199=
XM_005259721.3:c.597C>T XP_005259778.1:p.Gly199=
NM_052876.4:c.597C>T MANE Select NP_443108.1:p.Gly199=
Search 100 bp 5'
Search 100 bp 3'