Canonical Allele Identifier: CA6190786

Gene: SERPINH1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.75566695C>A , CM000673.2:g.75566695C>A	GRCh38
NC_000011.9:g.75277740C>A , CM000673.1:g.75277740C>A	GRCh37
NC_000011.8:g.74955388C>A	NCBI36
NG_012052.1:g.9571C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358171.8:c.346C>A MANE Select	ENSP00000350894.4:p.Arg116Ser
ENST00000533449.6:c.346C>A	ENSP00000431827.2:p.Arg116Ser
ENST00000649490.1:c.346C>A	ENSP00000497544.1:p.Arg116Ser
ENST00000358171.7:c.346C>A	ENSP00000350894.3:p.Arg116Ser
ENST00000524558.5:c.346C>A	ENSP00000434412.1:p.Arg116Ser
ENST00000525492.5:c.205C>A	ENSP00000434482.1:p.Arg69Ser
ENST00000525611.5:c.346C>A	ENSP00000435452.1:p.Arg116Ser
ENST00000526397.5:c.346C>A	ENSP00000434964.1:p.Arg116Ser
ENST00000528760.1:c.346C>A	ENSP00000437108.1:p.Arg116Ser
ENST00000528990.1:c.346C>A	ENSP00000432007.2:p.Arg116Ser
ENST00000529643.1:c.346C>A	ENSP00000435936.1:p.Arg116Ser
ENST00000530284.5:c.346C>A	ENSP00000436305.1:p.Arg116Ser
ENST00000532356.5:c.346C>A	ENSP00000436040.1:p.Arg116Ser
ENST00000533449.5:c.346C>A	ENSP00000431827.1:p.Arg116Ser
ENST00000533603.5:c.346C>A	ENSP00000434657.1:p.Arg116Ser
NM_001207014.1:c.346C>A	NP_001193943.1:p.Arg116Ser
NM_001235.3:c.346C>A	NP_001226.2:p.Arg116Ser
XM_006718729.1:c.346C>A	XP_006718792.1:p.Arg116Ser
XM_011545326.1:c.346C>A	XP_011543628.1:p.Arg116Ser
XM_011545327.1:c.346C>A	XP_011543629.1:p.Arg116Ser
XM_024448756.1:c.346C>A	XP_024304524.1:p.Arg116Ser
NM_001207014.2:c.346C>A	NP_001193943.1:p.Arg116Ser
NM_001235.5:c.346C>A MANE Select	NP_001226.2:p.Arg116Ser
NM_001207014.3:c.346C>A	NP_001193943.1:p.Arg116Ser