Canonical Allele Identifier: CA276791219
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs930785367
MyVariant Identifiers: chr16:g.2340770C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340770C>G , CM000678.2:g.2340770C>G GRCh38
NC_000016.9:g.2390771C>G , CM000678.1:g.2390771C>G GRCh37
NC_000016.8:g.2330772C>G NCBI36
NG_011790.1:g.4977G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1439C>G
ENST00000512848.5:n.182+1439C>G