Canonical Allele Identifier: CA10481623
Gene: SERPINA7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2661129
ClinVar RCV Id: RCV003432306
dbSNP Id: rs199754692
ExAC: X:105277495 G / A
gnomAD v2: X-105277495-G-A
gnomAD v3: X-106033504-G-A
gnomAD v4: X-106033504-G-A
MyVariant Identifiers: chrX:g.105277495G>A (hg19) chrX:g.106033504G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.106033504G>A , CM000685.2:g.106033504G>A GRCh38
NC_000023.10:g.105277495G>A , CM000685.1:g.105277495G>A GRCh37
NC_000023.9:g.105164151G>A NCBI36
NG_021252.1:g.10224C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372563.2:c.1244C>T MANE Select ENSP00000361644.1:p.Ala415Val
ENST00000327674.8:c.1244C>T ENSP00000329374.4:p.Ala415Val
ENST00000372563.1:c.1244C>T ENSP00000361644.1:p.Ala415Val
NM_000354.5:c.1244C>T NP_000345.2:p.Ala415Val
XM_006724683.1:c.1274C>T XP_006724746.1:p.Ala425Val
XM_005262180.4:c.*189C>T XP_005262237.1:n.*189C>T
XM_006724683.2:c.1274C>T XP_006724746.1:p.Ala425Val
NM_000354.6:c.1244C>T MANE Select NP_000345.2:p.Ala415Val
Search 100 bp 5'
Search 100 bp 3'