Canonical Allele Identifier: CA413874416

Gene: SERPINA7

Linked Data

• MyVariant Identifiers: chrX:g.105277603G>T (hg19) ; chrX:g.106033612G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106033612G>T , CM000685.2:g.106033612G>T	GRCh38
NC_000023.10:g.105277603G>T , CM000685.1:g.105277603G>T	GRCh37
NC_000023.9:g.105164259G>T	NCBI36
NG_021252.1:g.10116C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372563.2:c.1136C>A MANE Select	ENSP00000361644.1:p.Thr379Asn
ENST00000327674.8:c.1136C>A	ENSP00000329374.4:p.Thr379Asn
ENST00000372563.1:c.1136C>A	ENSP00000361644.1:p.Thr379Asn
NM_000354.5:c.1136C>A	NP_000345.2:p.Thr379Asn
XM_005262180.3:c.*81C>A	XP_005262237.1:n.*81C>A
XM_006724683.1:c.1166C>A	XP_006724746.1:p.Thr389Asn
XM_005262180.4:c.*81C>A	XP_005262237.1:n.*81C>A
XM_006724683.2:c.1166C>A	XP_006724746.1:p.Thr389Asn
NM_000354.6:c.1136C>A MANE Select	NP_000345.2:p.Thr379Asn