Canonical Allele Identifier: CA413873798

Gene: SERPINA7

Linked Data

• MyVariant Identifiers: chrX:g.105277493A>T (hg19) ; chrX:g.106033502A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106033502A>T , CM000685.2:g.106033502A>T	GRCh38
NC_000023.10:g.105277493A>T , CM000685.1:g.105277493A>T	GRCh37
NC_000023.9:g.105164149A>T	NCBI36
NG_021252.1:g.10226T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372563.2:c.1246T>A MANE Select	ENSP00000361644.1:p.Ter416Lys
ENST00000327674.8:c.1246T>A	ENSP00000329374.4:p.Ter416Lys
ENST00000372563.1:c.1246T>A	ENSP00000361644.1:p.Ter416Lys
NM_000354.5:c.1246T>A	NP_000345.2:p.Ter416Lys
XM_006724683.1:c.1276T>A	XP_006724746.1:p.Ter426Lys
XM_005262180.4:c.*191T>A	XP_005262237.1:n.*191T>A
XM_006724683.2:c.1276T>A	XP_006724746.1:p.Ter426Lys
NM_000354.6:c.1246T>A MANE Select	NP_000345.2:p.Ter416Lys