Canonical Allele Identifier: CA305552495
Gene: NACC1 HGNC NCBI

Linked Data

dbSNP Id: rs569892572
gnomAD v4: 19-13135084-G-C
MyVariant Identifiers: chr19:g.13245898G>C (hg19) chr19:g.13135084G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13135084G>C , CM000681.2:g.13135084G>C GRCh38
NC_000019.9:g.13245898G>C , CM000681.1:g.13245898G>C GRCh37
NC_000019.8:g.13106898G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000586171.3:c.-8-116G>C ENSP00000467120.2:n.-8-116G>C
ENST00000700232.1:c.-8-116G>C ENSP00000514870.1:n.-8-116G>C
ENST00000292431.5:c.-8-116G>C MANE Select ENSP00000292431.3:n.-8-116G>C
ENST00000586171.2:c.-8-116G>C ENSP00000467120.1:n.-8-116G>C
ENST00000292431.4:c.-8-116G>C ENSP00000292431.3:n.-8-116G>C
ENST00000586171.1:c.-8-116G>C ENSP00000467120.1:n.-8-116G>C
NM_052876.3:c.-8-116G>C NP_443108.1:n.-8-116G>C
XM_005259721.2:c.-8-116G>C XP_005259778.1:n.-8-116G>C
XM_005259721.3:c.-8-116G>C XP_005259778.1:n.-8-116G>C
NM_052876.4:c.-8-116G>C MANE Select NP_443108.1:n.-8-116G>C
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