Canonical Allele Identifier: CA224662952
Community Standard Title: NM_001235.5(SERPINH1):c.*668A>G
Gene: SERPINH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.75572751A>G , CM000673.2:g.75572751A>G GRCh38
NC_000011.9:g.75283796A>G , CM000673.1:g.75283796A>G GRCh37
NC_000011.8:g.74961444A>G NCBI36
NG_012052.1:g.15627A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001235.5:c.*668A>G MANE Select NP_001226.2:n.*668A>G
ENST00000358171.8:c.*668A>G MANE Select ENSP00000350894.4:n.*668A>G
NM_001207014.1:c.*668A>G NP_001193943.1:n.*668A>G
NM_001207014.2:c.*668A>G NP_001193943.1:n.*668A>G
NM_001207014.3:c.*668A>G NP_001193943.1:n.*668A>G
NM_001235.3:c.*668A>G NP_001226.2:n.*668A>G
ENST00000358171.7:c.*668A>G ENSP00000350894.3:n.*668A>G
ENST00000524558.5:c.*668A>G ENSP00000434412.1:n.*668A>G
ENST00000525876.1:c.*668A>G ENSP00000433532.1:n.*668A>G
ENST00000526638.1:c.687A>G
ENST00000533603.5:c.*668A>G ENSP00000434657.1:n.*668A>G
XM_006718729.1:c.*668A>G XP_006718792.1:n.*668A>G
XM_011545326.1:c.*668A>G XP_011543628.1:n.*668A>G
XM_011545327.1:c.*668A>G XP_011543629.1:n.*668A>G
XM_024448756.1:c.*668A>G XP_024304524.1:n.*668A>G