Canonical Allele Identifier: CA2625667639
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493602G>T , CM000676.2:g.74493602G>T GRCh38
NC_000014.8:g.74960305G>T , CM000676.1:g.74960305G>T GRCh37
NC_000014.7:g.74030058G>T NCBI36
NG_007117.1:g.4780C>A
NG_033074.1:g.4883G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-96C>A ENSP00000450887.1:n.-96C>A
ENST00000556009.5:c.147+429C>A