Canonical Allele Identifier: CA6191002

Gene: SERPINH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.75571868C>T , CM000673.2:g.75571868C>T	GRCh38
NC_000011.9:g.75282913C>T , CM000673.1:g.75282913C>T	GRCh37
NC_000011.8:g.74960561C>T	NCBI36
NG_012052.1:g.14744C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001235.5:c.1042C>T MANE Select	NP_001226.2:p.Leu348=
ENST00000358171.8:c.1042C>T MANE Select	ENSP00000350894.4:p.Leu348=
NM_001207014.1:c.1042C>T	NP_001193943.1:p.Leu348=
NM_001207014.2:c.1042C>T	NP_001193943.1:p.Leu348=
NM_001207014.3:c.1042C>T	NP_001193943.1:p.Leu348=
NM_001235.3:c.1042C>T	NP_001226.2:p.Leu348=
ENST00000358171.7:c.1042C>T	ENSP00000350894.3:p.Leu348=
ENST00000524558.5:c.1042C>T	ENSP00000434412.1:p.Leu348=
ENST00000525876.1:c.391C>T	ENSP00000433532.1:p.Leu131=
ENST00000533449.6:c.1042C>T	ENSP00000431827.2:p.Leu348=
ENST00000533603.5:c.1042C>T	ENSP00000434657.1:p.Leu348=
ENST00000649490.1:c.*1693C>T	ENSP00000497544.1:n.*1693C>T
XM_006718729.1:c.1042C>T	XP_006718792.1:p.Leu348=
XM_011545326.1:c.1042C>T	XP_011543628.1:p.Leu348=
XM_011545327.1:c.1042C>T	XP_011543629.1:p.Leu348=
XM_024448756.1:c.1042C>T	XP_024304524.1:p.Leu348=