Canonical Allele Identifier: CA413874151

Gene: SERPINA7

Linked Data

• MyVariant Identifiers: chrX:g.105277557C>A (hg19) ; chrX:g.106033566C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106033566C>A , CM000685.2:g.106033566C>A	GRCh38
NC_000023.10:g.105277557C>A , CM000685.1:g.105277557C>A	GRCh37
NC_000023.9:g.105164213C>A	NCBI36
NG_021252.1:g.10162G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372563.2:c.1182G>T MANE Select	ENSP00000361644.1:p.Leu394Phe
ENST00000327674.8:c.1182G>T	ENSP00000329374.4:p.Leu394Phe
ENST00000372563.1:c.1182G>T	ENSP00000361644.1:p.Leu394Phe
NM_000354.5:c.1182G>T	NP_000345.2:p.Leu394Phe
XM_006724683.1:c.1212G>T	XP_006724746.1:p.Leu404Phe
XM_005262180.4:c.*127G>T	XP_005262237.1:n.*127G>T
XM_006724683.2:c.1212G>T	XP_006724746.1:p.Leu404Phe
NM_000354.6:c.1182G>T MANE Select	NP_000345.2:p.Leu394Phe