Canonical Allele Identifier: CA517953219

Gene: SERPINA7

Linked Data

• gnomAD v4: X-106033536-G-A
• MyVariant Identifiers: chrX:g.105277527G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106033536G>A , CM000685.2:g.106033536G>A	GRCh38
NC_000023.10:g.105277527G>A , CM000685.1:g.105277527G>A	GRCh37
NC_000023.9:g.105164183G>A	NCBI36
NG_021252.1:g.10192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372563.2:c.1212C>T MANE Select	ENSP00000361644.1:p.Leu404=
ENST00000327674.8:c.1212C>T	ENSP00000329374.4:p.Leu404=
ENST00000372563.1:c.1212C>T	ENSP00000361644.1:p.Leu404=
NM_000354.5:c.1212C>T	NP_000345.2:p.Leu404=
XM_006724683.1:c.1242C>T	XP_006724746.1:p.Leu414=
XM_005262180.4:c.*157C>T	XP_005262237.1:n.*157C>T
XM_006724683.2:c.1242C>T	XP_006724746.1:p.Leu414=
NM_000354.6:c.1212C>T MANE Select	NP_000345.2:p.Leu404=