Canonical Allele Identifier: CA10481755

Gene: SERPINA7

Linked Data

• dbSNP Id: rs759553153
• ExAC: X:105280492 C / T
• gnomAD v2: X-105280492-C-T
• gnomAD v4: X-106036501-C-T
• MyVariant Identifiers: chrX:g.105280492C>T (hg19) ; chrX:g.106036501C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106036501C>T , CM000685.2:g.106036501C>T	GRCh38
NC_000023.10:g.105280492C>T , CM000685.1:g.105280492C>T	GRCh37
NC_000023.9:g.105167148C>T	NCBI36
NG_021252.1:g.7227G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372563.2:c.558G>A MANE Select	ENSP00000361644.1:p.Val186=
ENST00000327674.8:c.558G>A	ENSP00000329374.4:p.Val186=
ENST00000372563.1:c.558G>A	ENSP00000361644.1:p.Val186=
NM_000354.5:c.558G>A	NP_000345.2:p.Val186=
XM_005262180.3:c.558G>A	XP_005262237.1:p.Val186=
XM_006724683.1:c.558G>A	XP_006724746.1:p.Val186=
XM_005262180.4:c.558G>A	XP_005262237.1:p.Val186=
XM_006724683.2:c.558G>A	XP_006724746.1:p.Val186=
NM_000354.6:c.558G>A MANE Select	NP_000345.2:p.Val186=