Canonical Allele Identifier: CA305553008
Gene: NACC1 HGNC NCBI

Linked Data

dbSNP Id: rs902911861
gnomAD v2: 19-13246540-G-A
gnomAD v3: 19-13135726-G-A
gnomAD v4: 19-13135726-G-A
MyVariant Identifiers: chr19:g.13246540G>A (hg19) chr19:g.13135726G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13135726G>A , CM000681.2:g.13135726G>A GRCh38
NC_000019.9:g.13246540G>A , CM000681.1:g.13246540G>A GRCh37
NC_000019.8:g.13107540G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586171.3:c.519G>A ENSP00000467120.2:p.Ser173=
ENST00000700232.1:c.519G>A ENSP00000514870.1:p.Ser173=
ENST00000292431.5:c.519G>A MANE Select ENSP00000292431.3:p.Ser173=
ENST00000292431.4:c.519G>A ENSP00000292431.3:p.Ser173=
NM_052876.3:c.519G>A NP_443108.1:p.Ser173=
XM_005259721.2:c.519G>A XP_005259778.1:p.Ser173=
XM_005259721.3:c.519G>A XP_005259778.1:p.Ser173=
NM_052876.4:c.519G>A MANE Select NP_443108.1:p.Ser173=
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