Canonical Allele Identifier: CA413874875

Gene: SERPINA7

Linked Data

• MyVariant Identifiers: chrX:g.105277691C>A (hg19) ; chrX:g.106033700C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372563.2:c.1048G>T MANE Select	ENSP00000361644.1:p.Ala350Ser
ENST00000327674.8:c.1048G>T	ENSP00000329374.4:p.Ala350Ser
ENST00000372563.1:c.1048G>T	ENSP00000361644.1:p.Ala350Ser
ENST00000487487.1:n.382G>T
NM_000354.5:c.1048G>T	NP_000345.2:p.Ala350Ser
XM_005262180.3:c.1109G>T	XP_005262237.1:p.Cys370Phe
XM_006724683.1:c.1078G>T	XP_006724746.1:p.Ala360Ser
XM_005262180.4:c.1109G>T	XP_005262237.1:p.Cys370Phe
XM_006724683.2:c.1078G>T	XP_006724746.1:p.Ala360Ser
NM_000354.6:c.1048G>T MANE Select	NP_000345.2:p.Ala350Ser