Canonical Allele Identifier: CA354921924

Gene: HPS3

Linked Data

• MyVariant Identifiers: chr3:g.148875267T>G (hg19) ; chr3:g.149157480T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149157480T>G , CM000665.2:g.149157480T>G	GRCh38
NC_000003.11:g.148875267T>G , CM000665.1:g.148875267T>G	GRCh37
NC_000003.10:g.150357957T>G	NCBI36
NG_009847.1:g.32897T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1640T>G MANE Select	ENSP00000296051.2:p.Leu547Arg
ENST00000296051.6:c.1640T>G	ENSP00000296051.2:p.Leu547Arg
ENST00000460120.5:c.1145T>G	ENSP00000418230.1:p.Leu382Arg
NM_001308258.1:c.1145T>G	NP_001295187.1:p.Leu382Arg
NM_032383.3:c.1640T>G	NP_115759.2:p.Leu547Arg
NM_032383.4:c.1640T>G	NP_115759.2:p.Leu547Arg
XM_005247834.3:c.1640T>G	XP_005247891.1:p.Leu547Arg
XM_006713788.1:c.1640T>G	XP_006713851.1:p.Leu547Arg
XR_924201.1:n.1755T>G
XM_005247834.4:c.1640T>G	XP_005247891.1:p.Leu547Arg
XM_017007323.2:c.1640T>G	XP_016862812.1:p.Leu547Arg
XR_001740326.2:n.1740T>G
XR_001740327.2:n.1740T>G
XR_001740328.2:n.1740T>G
XR_924201.3:n.1740T>G
NM_001308258.2:c.1145T>G	NP_001295187.1:p.Leu382Arg
NM_032383.5:c.1640T>G MANE Select	NP_115759.2:p.Leu547Arg