Canonical Allele Identifier: CA413875120

Gene: SERPINA7

Linked Data

• MyVariant Identifiers: chrX:g.105278252C>G (hg19) ; chrX:g.106034261C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106034261C>G , CM000685.2:g.106034261C>G	GRCh38
NC_000023.10:g.105278252C>G , CM000685.1:g.105278252C>G	GRCh37
NC_000023.9:g.105164908C>G	NCBI36
NG_021252.1:g.9467G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372563.2:c.1018G>C MANE Select	ENSP00000361644.1:p.Glu340Gln
ENST00000327674.8:c.1018G>C	ENSP00000329374.4:p.Glu340Gln
ENST00000372563.1:c.1018G>C	ENSP00000361644.1:p.Glu340Gln
ENST00000487487.1:n.291G>C
NM_000354.5:c.1018G>C	NP_000345.2:p.Glu340Gln
XM_005262180.3:c.1018G>C	XP_005262237.1:p.Glu340Gln
XM_006724683.1:c.1018G>C	XP_006724746.1:p.Glu340Gln
XM_005262180.4:c.1018G>C	XP_005262237.1:p.Glu340Gln
XM_006724683.2:c.1018G>C	XP_006724746.1:p.Glu340Gln
NM_000354.6:c.1018G>C MANE Select	NP_000345.2:p.Glu340Gln