Canonical Allele Identifier: CA120667
Gene: SERPINA7 HGNC NCBI

Linked Data

ClinVar Variation Id: 9787
ClinVar RCV Id: RCV000010446
dbSNP Id: rs72554659
MyVariant Identifiers: chrX:g.105277688G>A (hg19) chrX:g.106033697G>A (hg38)
PubMed: PMID:1901689 PMID:3102557
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.106033697G>A , CM000685.2:g.106033697G>A GRCh38
NC_000023.10:g.105277688G>A , CM000685.1:g.105277688G>A GRCh37
NC_000023.9:g.105164344G>A NCBI36
NG_021252.1:g.10031C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372563.2:c.1051C>T MANE Select ENSP00000361644.1:p.His351Tyr
ENST00000327674.8:c.1051C>T ENSP00000329374.4:p.His351Tyr
ENST00000372563.1:c.1051C>T ENSP00000361644.1:p.His351Tyr
ENST00000487487.1:n.385C>T
NM_000354.5:c.1051C>T NP_000345.2:p.His351Tyr
XM_005262180.3:c.1112C>T XP_005262237.1:p.Pro371Leu
XM_006724683.1:c.1081C>T XP_006724746.1:p.His361Tyr
XM_005262180.4:c.1112C>T XP_005262237.1:p.Pro371Leu
XM_006724683.2:c.1081C>T XP_006724746.1:p.His361Tyr
NM_000354.6:c.1051C>T MANE Select NP_000345.2:p.His351Tyr
Search 100 bp 5'
Search 100 bp 3'