Canonical Allele Identifier: CA413873791

Gene: SERPINA7

Linked Data

• MyVariant Identifiers: chrX:g.105277492T>C (hg19) ; chrX:g.106033501T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106033501T>C , CM000685.2:g.106033501T>C	GRCh38
NC_000023.10:g.105277492T>C , CM000685.1:g.105277492T>C	GRCh37
NC_000023.9:g.105164148T>C	NCBI36
NG_021252.1:g.10227A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372563.2:c.1247A>G MANE Select	ENSP00000361644.1:p.Ter416Trp
ENST00000327674.8:c.1247A>G	ENSP00000329374.4:p.Ter416Trp
ENST00000372563.1:c.1247A>G	ENSP00000361644.1:p.Ter416Trp
NM_000354.5:c.1247A>G	NP_000345.2:p.Ter416Trp
XM_006724683.1:c.1277A>G	XP_006724746.1:p.Ter426Trp
XM_005262180.4:c.*192A>G	XP_005262237.1:n.*192A>G
XM_006724683.2:c.1277A>G	XP_006724746.1:p.Ter426Trp
NM_000354.6:c.1247A>G MANE Select	NP_000345.2:p.Ter416Trp