Canonical Allele Identifier: CA413874899

Gene: SERPINA7

Linked Data

• dbSNP Id: rs1403811168
• gnomAD v2: X-105277696-T-A
• gnomAD v4: X-106033705-T-A
• MyVariant Identifiers: chrX:g.105277696T>A (hg19) ; chrX:g.106033705T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106033705T>A , CM000685.2:g.106033705T>A	GRCh38
NC_000023.10:g.105277696T>A , CM000685.1:g.105277696T>A	GRCh37
NC_000023.9:g.105164352T>A	NCBI36
NG_021252.1:g.10023A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372563.2:c.1045-2A>T MANE Select	ENSP00000361644.1:n.1045-2A>T
ENST00000327674.8:c.1045-2A>T	ENSP00000329374.4:n.1045-2A>T
ENST00000372563.1:c.1045-2A>T	ENSP00000361644.1:n.1045-2A>T
ENST00000487487.1:n.377A>T
NM_000354.5:c.1045-2A>T	NP_000345.2:n.1045-2A>T
XM_005262180.3:c.1104A>T	XP_005262237.1:p.Thr368=
XM_006724683.1:c.1073A>T	XP_006724746.1:p.Gln358Leu
XM_005262180.4:c.1104A>T	XP_005262237.1:p.Thr368=
XM_006724683.2:c.1073A>T	XP_006724746.1:p.Gln358Leu
NM_000354.6:c.1045-2A>T MANE Select	NP_000345.2:n.1045-2A>T