Canonical Allele Identifier: CA6190719
Gene: SERPINH1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.75566441G>C
GRCh37 chr11:g.75277486G>C
Revel Score:
ENST00000533603 0.255
ENST00000358171 (MANE Select) 0.255
ENST00000526397 0.255
ENST00000421448 0.255
ENST00000529643 0.255
ENST00000525492 0.255
ENST00000530284 0.255
ENST00000532356 0.255
ENST00000524558 0.255
ENST00000528990 0.255
ENST00000533449 0.255
ENST00000525611 0.255
ENST00000528760 0.255
gnomAD v2:
11:75277486 G / C
gnomAD v3:
11:75566441 G / C
gnomAD v4:
chr11-75566441-G-C
Joint Max Group AF 0.00024846 (NFE)
Genomes Max Group AF 0.00014673 (NFE)
Exomes Max Group AF 0.0002503 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.75566441G>C , CM000673.2:g.75566441G>C GRCh38
NC_000011.9:g.75277486G>C , CM000673.1:g.75277486G>C GRCh37
NC_000011.8:g.74955134G>C NCBI36
NG_012052.1:g.9317G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358171.8:c.92G>C MANE Select ENSP00000350894.4:p.Gly31Ala
ENST00000533449.6:c.92G>C ENSP00000431827.2:p.Gly31Ala
ENST00000649490.1:c.92G>C ENSP00000497544.1:p.Gly31Ala
ENST00000358171.7:c.92G>C ENSP00000350894.3:p.Gly31Ala
ENST00000524558.5:c.92G>C ENSP00000434412.1:p.Gly31Ala
ENST00000525492.5:c.92G>C ENSP00000434482.1:p.Gly31Ala
ENST00000525611.5:c.92G>C ENSP00000435452.1:p.Gly31Ala
ENST00000526242.1:c.43-26G>C ENSP00000431384.1:n.43-26G>C
ENST00000526397.5:c.92G>C ENSP00000434964.1:p.Gly31Ala
ENST00000528760.1:c.92G>C ENSP00000437108.1:p.Gly31Ala
ENST00000528990.1:c.92G>C ENSP00000432007.2:p.Gly31Ala
ENST00000529643.1:c.92G>C ENSP00000435936.1:p.Gly31Ala
ENST00000530284.5:c.92G>C ENSP00000436305.1:p.Gly31Ala
ENST00000532356.5:c.92G>C ENSP00000436040.1:p.Gly31Ala
ENST00000533449.5:c.92G>C ENSP00000431827.1:p.Gly31Ala
ENST00000533603.5:c.92G>C ENSP00000434657.1:p.Gly31Ala
NM_001207014.1:c.92G>C NP_001193943.1:p.Gly31Ala
NM_001235.3:c.92G>C NP_001226.2:p.Gly31Ala
XM_006718729.1:c.92G>C XP_006718792.1:p.Gly31Ala
XM_011545326.1:c.92G>C XP_011543628.1:p.Gly31Ala
XM_011545327.1:c.92G>C XP_011543629.1:p.Gly31Ala
XM_024448756.1:c.92G>C XP_024304524.1:p.Gly31Ala
NM_001207014.2:c.92G>C NP_001193943.1:p.Gly31Ala
NM_001235.5:c.92G>C MANE Select NP_001226.2:p.Gly31Ala
NM_001207014.3:c.92G>C NP_001193943.1:p.Gly31Ala
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