Canonical Allele Identifier: CA2641273805

Gene: NPC1

Linked Data

• gnomAD v4: 18-23568724-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23568724A>C , CM000680.2:g.23568724A>C	GRCh38
NC_000018.9:g.21148688A>C , CM000680.1:g.21148688A>C	GRCh37
NC_000018.8:g.19402686A>C	NCBI36
NG_012795.1:g.22894T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.463+99T>G MANE Select	ENSP00000269228.4:n.463+99T>G
ENST00000269228.9:c.463+99T>G	ENSP00000269228.4:n.463+99T>G
ENST00000540608.5:n.377+99T>G
NM_000271.4:c.463+99T>G	NP_000262.2:n.463+99T>G
XM_005258277.1:c.463+99T>G	XP_005258334.1:n.463+99T>G
XM_005258278.3:c.463+99T>G	XP_005258335.1:n.463+99T>G
XM_005258279.1:c.463+99T>G	XP_005258336.1:n.463+99T>G
XM_006722479.2:c.463+99T>G	XP_006722542.1:n.463+99T>G
XM_011526015.1:c.-3+99T>G	XP_011524317.1:n.-3+99T>G
XM_005258278.5:c.463+99T>G	XP_005258335.1:n.463+99T>G
XM_005258279.2:c.463+99T>G	XP_005258336.1:n.463+99T>G
XM_006722479.3:c.463+99T>G	XP_006722542.1:n.463+99T>G
XM_017025784.1:c.463+99T>G	XP_016881273.1:n.463+99T>G
XM_017025785.1:c.463+99T>G	XP_016881274.1:n.463+99T>G
XM_017025786.1:c.463+99T>G	XP_016881275.1:n.463+99T>G
XM_017025787.1:c.463+99T>G	XP_016881276.1:n.463+99T>G
NM_000271.5:c.463+99T>G MANE Select	NP_000262.2:n.463+99T>G