Canonical Allele Identifier: CA413874873

Gene: SERPINA7

Linked Data

• gnomAD v4: X-106033700-C-T
• MyVariant Identifiers: chrX:g.105277691C>T (hg19) ; chrX:g.106033700C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106033700C>T , CM000685.2:g.106033700C>T	GRCh38
NC_000023.10:g.105277691C>T , CM000685.1:g.105277691C>T	GRCh37
NC_000023.9:g.105164347C>T	NCBI36
NG_021252.1:g.10028G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372563.2:c.1048G>A MANE Select	ENSP00000361644.1:p.Ala350Thr
ENST00000327674.8:c.1048G>A	ENSP00000329374.4:p.Ala350Thr
ENST00000372563.1:c.1048G>A	ENSP00000361644.1:p.Ala350Thr
ENST00000487487.1:n.382G>A
NM_000354.5:c.1048G>A	NP_000345.2:p.Ala350Thr
XM_005262180.3:c.1109G>A	XP_005262237.1:p.Cys370Tyr
XM_006724683.1:c.1078G>A	XP_006724746.1:p.Ala360Thr
XM_005262180.4:c.1109G>A	XP_005262237.1:p.Cys370Tyr
XM_006724683.2:c.1078G>A	XP_006724746.1:p.Ala360Thr
NM_000354.6:c.1048G>A MANE Select	NP_000345.2:p.Ala350Thr