Canonical Allele Identifier: CA343643695

Gene: RNASEL

Linked Data

• MyVariant Identifiers: chr1:g.182555203C>A (hg19) ; chr1:g.182586068C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.182586068C>A , CM000663.2:g.182586068C>A	GRCh38
NC_000001.10:g.182555203C>A , CM000663.1:g.182555203C>A	GRCh37
NC_000001.9:g.180821826C>A	NCBI36
NG_009024.2:g.5906G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367559.7:c.739G>T MANE Select	ENSP00000356530.3:p.Val247Leu
ENST00000539397.1:c.739G>T	ENSP00000440844.1:p.Val247Leu
NM_021133.3:c.739G>T	NP_066956.1:p.Val247Leu
XM_005245411.2:c.739G>T	XP_005245468.1:p.Val247Leu
XR_001737359.1:n.1022G>T
XR_001737360.1:n.1022G>T
NM_021133.4:c.739G>T MANE Select	NP_066956.1:p.Val247Leu