Canonical Allele Identifier: CA413875217

Gene: SERPINA7

Linked Data

• MyVariant Identifiers: chrX:g.105278270C>T (hg19) ; chrX:g.106034279C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106034279C>T , CM000685.2:g.106034279C>T	GRCh38
NC_000023.10:g.105278270C>T , CM000685.1:g.105278270C>T	GRCh37
NC_000023.9:g.105164926C>T	NCBI36
NG_021252.1:g.9449G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372563.2:c.1000G>A MANE Select	ENSP00000361644.1:p.Asp334Asn
ENST00000327674.8:c.1000G>A	ENSP00000329374.4:p.Asp334Asn
ENST00000372563.1:c.1000G>A	ENSP00000361644.1:p.Asp334Asn
ENST00000487487.1:n.273G>A
NM_000354.5:c.1000G>A	NP_000345.2:p.Asp334Asn
XM_005262180.3:c.1000G>A	XP_005262237.1:p.Asp334Asn
XM_006724683.1:c.1000G>A	XP_006724746.1:p.Asp334Asn
XM_005262180.4:c.1000G>A	XP_005262237.1:p.Asp334Asn
XM_006724683.2:c.1000G>A	XP_006724746.1:p.Asp334Asn
NM_000354.6:c.1000G>A MANE Select	NP_000345.2:p.Asp334Asn