Canonical Allele Identifier: CA2682630882

Gene: NPC1L1

Linked Data

• gnomAD v4: 7-44541332-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44541332A>G , CM000669.2:g.44541332A>G	GRCh38
NC_000007.13:g.44580931A>G , CM000669.1:g.44580931A>G	GRCh37
NC_000007.12:g.44547456A>G	NCBI36
NG_013088.1:g.4984T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011515326.3:c.-73T>C	XP_011513628.1:n.-73T>C
XR_002956423.1:n.320T>C