Canonical Allele Identifier: CA10481653

Gene: SERPINA7

Linked Data

• dbSNP Id: rs770608482
• ExAC: X:105277682 C / T
• gnomAD v2: X-105277682-C-T
• gnomAD v4: X-106033691-C-T
• MyVariant Identifiers: chrX:g.105277682C>T (hg19) ; chrX:g.106033691C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106033691C>T , CM000685.2:g.106033691C>T	GRCh38
NC_000023.10:g.105277682C>T , CM000685.1:g.105277682C>T	GRCh37
NC_000023.9:g.105164338C>T	NCBI36
NG_021252.1:g.10037G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372563.2:c.1057G>A MANE Select	ENSP00000361644.1:p.Ala353Thr
ENST00000327674.8:c.1057G>A	ENSP00000329374.4:p.Ala353Thr
ENST00000372563.1:c.1057G>A	ENSP00000361644.1:p.Ala353Thr
ENST00000487487.1:n.391G>A
NM_000354.5:c.1057G>A	NP_000345.2:p.Ala353Thr
XM_005262180.3:c.*2G>A	XP_005262237.1:n.*2G>A
XM_006724683.1:c.1087G>A	XP_006724746.1:p.Ala363Thr
XM_005262180.4:c.*2G>A	XP_005262237.1:n.*2G>A
XM_006724683.2:c.1087G>A	XP_006724746.1:p.Ala363Thr
NM_000354.6:c.1057G>A MANE Select	NP_000345.2:p.Ala353Thr