Canonical Allele Identifier: CA413874275

Gene: SERPINA7

Linked Data

• dbSNP Id: rs2147840350
• gnomAD v4: X-106033588-A-G
• MyVariant Identifiers: chrX:g.105277579A>G (hg19) ; chrX:g.106033588A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106033588A>G , CM000685.2:g.106033588A>G	GRCh38
NC_000023.10:g.105277579A>G , CM000685.1:g.105277579A>G	GRCh37
NC_000023.9:g.105164235A>G	NCBI36
NG_021252.1:g.10140T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372563.2:c.1160T>C MANE Select	ENSP00000361644.1:p.Ile387Thr
ENST00000327674.8:c.1160T>C	ENSP00000329374.4:p.Ile387Thr
ENST00000372563.1:c.1160T>C	ENSP00000361644.1:p.Ile387Thr
NM_000354.5:c.1160T>C	NP_000345.2:p.Ile387Thr
XM_006724683.1:c.1190T>C	XP_006724746.1:p.Ile397Thr
XM_005262180.4:c.*105T>C	XP_005262237.1:n.*105T>C
XM_006724683.2:c.1190T>C	XP_006724746.1:p.Ile397Thr
NM_000354.6:c.1160T>C MANE Select	NP_000345.2:p.Ile387Thr