Canonical Allele Identifier: CA413873784
Gene: SERPINA7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.106033500C>A , CM000685.2:g.106033500C>A GRCh38
NC_000023.10:g.105277491C>A , CM000685.1:g.105277491C>A GRCh37
NC_000023.9:g.105164147C>A NCBI36
NG_021252.1:g.10228G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372563.2:c.1248G>T MANE Select ENSP00000361644.1:p.Ter416Tyr
ENST00000327674.8:c.1248G>T ENSP00000329374.4:p.Ter416Tyr
ENST00000372563.1:c.1248G>T ENSP00000361644.1:p.Ter416Tyr
NM_000354.5:c.1248G>T NP_000345.2:p.Ter416Tyr
XM_006724683.1:c.1278G>T XP_006724746.1:p.Ter426Tyr
XM_005262180.4:c.*193G>T XP_005262237.1:n.*193G>T
XM_006724683.2:c.1278G>T XP_006724746.1:p.Ter426Tyr
NM_000354.6:c.1248G>T MANE Select NP_000345.2:p.Ter416Tyr