Canonical Allele Identifier: CA400784191
Gene: NACA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590832A>C , CM000679.2:g.61590832A>C GRCh38
NC_000017.10:g.59668193A>C , CM000679.1:g.59668193A>C GRCh37
NC_000017.9:g.57022975A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.349T>G MANE Select ENSP00000427802.1:p.Ser117Ala
ENST00000521764.2:c.349T>G ENSP00000427802.1:p.Ser117Ala
NM_199290.3:c.349T>G NP_954984.1:p.Ser117Ala
NM_199290.4:c.349T>G MANE Select NP_954984.1:p.Ser117Ala