Canonical Allele Identifier: CA6190999

Gene: SERPINH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.75571846G>A , CM000673.2:g.75571846G>A	GRCh38
NC_000011.9:g.75282891G>A , CM000673.1:g.75282891G>A	GRCh37
NC_000011.8:g.74960539G>A	NCBI36
NG_012052.1:g.14722G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001235.5:c.1020G>A MANE Select	NP_001226.2:p.Met340Ile
ENST00000358171.8:c.1020G>A MANE Select	ENSP00000350894.4:p.Met340Ile
NM_001207014.1:c.1020G>A	NP_001193943.1:p.Met340Ile
NM_001207014.2:c.1020G>A	NP_001193943.1:p.Met340Ile
NM_001207014.3:c.1020G>A	NP_001193943.1:p.Met340Ile
NM_001235.3:c.1020G>A	NP_001226.2:p.Met340Ile
ENST00000358171.7:c.1020G>A	ENSP00000350894.3:p.Met340Ile
ENST00000524558.5:c.1020G>A	ENSP00000434412.1:p.Met340Ile
ENST00000525876.1:c.369G>A	ENSP00000433532.1:p.Met123Ile
ENST00000533449.6:c.1020G>A	ENSP00000431827.2:p.Met340Ile
ENST00000533603.5:c.1020G>A	ENSP00000434657.1:p.Met340Ile
ENST00000649490.1:c.*1671G>A	ENSP00000497544.1:n.*1671G>A
XM_006718729.1:c.1020G>A	XP_006718792.1:p.Met340Ile
XM_011545326.1:c.1020G>A	XP_011543628.1:p.Met340Ile
XM_011545327.1:c.1020G>A	XP_011543629.1:p.Met340Ile
XM_024448756.1:c.1020G>A	XP_024304524.1:p.Met340Ile