Canonical Allele Identifier: CA9817239
Gene: SNTA1 HGNC NCBI

Linked Data

dbSNP Id: rs770578866
ExAC: 20:32026806 G / A
gnomAD v2: 20-32026806-G-A
gnomAD v3: 20-33439000-G-A
gnomAD v4: 20-33439000-G-A
MyVariant Identifiers: chr20:g.32026806G>A (hg19) chr20:g.33439000G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33439000G>A , CM000682.2:g.33439000G>A GRCh38
NC_000020.10:g.32026806G>A , CM000682.1:g.32026806G>A GRCh37
NC_000020.9:g.31490467G>A NCBI36
NG_011622.1:g.9893C>T , LRG_332:g.9893C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.337C>T MANE Select ENSP00000217381.2:p.Leu113Phe
ENST00000217381.2:c.337C>T ENSP00000217381.2:p.Leu113Phe
NM_003098.2:c.337C>T , LRG_332t1:c.337C>T NP_003089.1:p.Leu113Phe
XM_005260517.1:c.337C>T XP_005260574.1:p.Leu113Phe
XM_011529007.1:c.337C>T XP_011527309.1:p.Leu113Phe
XM_011529008.1:c.337C>T XP_011527310.1:p.Leu113Phe
XR_936612.1:n.570C>T
XM_024451971.1:c.10C>T XP_024307739.1:p.Leu4Phe
NM_003098.3:c.337C>T MANE Select NP_003089.1:p.Leu113Phe
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