Canonical Allele Identifier: CA413876305

Gene: SERPINA7

Linked Data

• MyVariant Identifiers: chrX:g.105280480T>G (hg19) ; chrX:g.106036489T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106036489T>G , CM000685.2:g.106036489T>G	GRCh38
NC_000023.10:g.105280480T>G , CM000685.1:g.105280480T>G	GRCh37
NC_000023.9:g.105167136T>G	NCBI36
NG_021252.1:g.7239A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372563.2:c.570A>C MANE Select	ENSP00000361644.1:p.Gln190His
ENST00000327674.8:c.570A>C	ENSP00000329374.4:p.Gln190His
ENST00000372563.1:c.570A>C	ENSP00000361644.1:p.Gln190His
NM_000354.5:c.570A>C	NP_000345.2:p.Gln190His
XM_005262180.3:c.570A>C	XP_005262237.1:p.Gln190His
XM_006724683.1:c.570A>C	XP_006724746.1:p.Gln190His
XM_005262180.4:c.570A>C	XP_005262237.1:p.Gln190His
XM_006724683.2:c.570A>C	XP_006724746.1:p.Gln190His
NM_000354.6:c.570A>C MANE Select	NP_000345.2:p.Gln190His