Canonical Allele Identifier: CA2615177280

Gene: SERPINH1

Linked Data

• gnomAD v4: 11-75568870-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.75568870T>C , CM000673.2:g.75568870T>C	GRCh38
NC_000011.9:g.75279915T>C , CM000673.1:g.75279915T>C	GRCh37
NC_000011.8:g.74957563T>C	NCBI36
NG_012052.1:g.11746T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000358171.8:c.721+41T>C MANE Select	ENSP00000350894.4:n.721+41T>C
ENST00000533449.6:c.721+41T>C	ENSP00000431827.2:n.721+41T>C
ENST00000649490.1:c.721+41T>C	ENSP00000497544.1:n.721+41T>C
ENST00000358171.7:c.721+41T>C	ENSP00000350894.3:n.721+41T>C
ENST00000524558.5:c.721+41T>C	ENSP00000434412.1:n.721+41T>C
ENST00000525611.5:c.721+41T>C	ENSP00000435452.1:n.721+41T>C
ENST00000525876.1:c.70+41T>C	ENSP00000433532.1:n.70+41T>C
ENST00000526397.5:c.721+41T>C	ENSP00000434964.1:n.721+41T>C
ENST00000530284.5:c.721+41T>C	ENSP00000436305.1:n.721+41T>C
ENST00000532356.5:c.721+41T>C	ENSP00000436040.1:n.721+41T>C
ENST00000533603.5:c.721+41T>C	ENSP00000434657.1:n.721+41T>C
NM_001207014.1:c.721+41T>C	NP_001193943.1:n.721+41T>C
NM_001235.3:c.721+41T>C	NP_001226.2:n.721+41T>C
XM_006718729.1:c.721+41T>C	XP_006718792.1:n.721+41T>C
XM_011545326.1:c.721+41T>C	XP_011543628.1:n.721+41T>C
XM_011545327.1:c.721+41T>C	XP_011543629.1:n.721+41T>C
XM_024448756.1:c.721+41T>C	XP_024304524.1:n.721+41T>C
NM_001207014.2:c.721+41T>C	NP_001193943.1:n.721+41T>C
NM_001235.5:c.721+41T>C MANE Select	NP_001226.2:n.721+41T>C
NM_001207014.3:c.721+41T>C	NP_001193943.1:n.721+41T>C