Canonical Allele Identifier: CA10481643
Gene: SERPINA7 HGNC NCBI

Linked Data

dbSNP Id: rs781359342
ExAC: X:105277621 G / A
gnomAD v2: X-105277621-G-A
gnomAD v4: X-106033630-G-A
COSMIC: COSM145918
MyVariant Identifiers: chrX:g.105277621G>A (hg19) chrX:g.105277621_105277622delinsAA (hg19) chrX:g.106033630G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.106033630G>A , CM000685.2:g.106033630G>A GRCh38
NC_000023.10:g.105277621G>A , CM000685.1:g.105277621G>A GRCh37
NC_000023.9:g.105164277G>A NCBI36
NG_021252.1:g.10098C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372563.2:c.1118C>T MANE Select ENSP00000361644.1:p.Ser373Leu
ENST00000327674.8:c.1118C>T ENSP00000329374.4:p.Ser373Leu
ENST00000372563.1:c.1118C>T ENSP00000361644.1:p.Ser373Leu
NM_000354.5:c.1118C>T NP_000345.2:p.Ser373Leu
XM_005262180.3:c.*63C>T XP_005262237.1:n.*63C>T
XM_006724683.1:c.1148C>T XP_006724746.1:p.Ser383Leu
XM_005262180.4:c.*63C>T XP_005262237.1:n.*63C>T
XM_006724683.2:c.1148C>T XP_006724746.1:p.Ser383Leu
NM_000354.6:c.1118C>T MANE Select NP_000345.2:p.Ser373Leu
Search 100 bp 5'
Search 100 bp 3'