Canonical Allele Identifier: CA12800807

Gene: TSNARE1

Linked Data

• dbSNP Id: rs4129585
• gnomAD v2: 8-143312933-A-C
• gnomAD v3: 8-142231572-A-C
• gnomAD v4: 8-142231572-A-C
• MyVariant Identifiers: chr8:g.143312933A>C (hg19) ; chr8:g.142231572A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142231572A>C , CM000670.2:g.142231572A>C	GRCh38
NC_000008.10:g.143312933A>C , CM000670.1:g.143312933A>C	GRCh37
NC_000008.9:g.143310840A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000524325.6:c.1447-1993T>G MANE Select	ENSP00000428763.2:n.1447-1993T>G
ENST00000307180.4:c.1450-1993T>G	ENSP00000303437.4:n.1450-1993T>G
ENST00000520166.5:c.1450-1993T>G	ENSP00000427770.2:n.1450-1993T>G
ENST00000524325.5:c.1447-1993T>G	ENSP00000428763.2:n.1447-1993T>G
NM_145003.4:c.1447-1993T>G	NP_659440.2:n.1447-1993T>G
NM_001363740.2:c.1450-1993T>G	NP_001350669.1:n.1450-1993T>G
NM_001366901.1:c.1444-1993T>G	NP_001353830.1:n.1444-1993T>G
XM_017013176.1:c.1915-1993T>G	XP_016868665.1:n.1915-1993T>G
XR_001746132.1:n.437-185T>G
NM_145003.5:c.1447-1993T>G MANE Select	NP_659440.2:n.1447-1993T>G