Canonical Allele Identifier: CA5239666

Gene: HSPA5

Linked Data

• dbSNP Id: rs774390329
• ExAC: 9:128000946 C / T
• gnomAD v2: 9-128000946-C-T
• gnomAD v4: 9-125238667-C-T
• MyVariant Identifiers: chr9:g.128000946C>T (hg19) ; chr9:g.125238667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.125238667C>T , CM000671.2:g.125238667C>T	GRCh38
NC_000009.11:g.128000946C>T , CM000671.1:g.128000946C>T	GRCh37
NC_000009.10:g.127040767C>T	NCBI36
NG_027761.1:g.7721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324460.7:c.1157G>A MANE Select	ENSP00000324173.6:p.Arg386His
ENST00000679355.1:n.1512G>A
ENST00000679475.1:n.1741G>A
ENST00000680032.1:c.1157G>A	ENSP00000506285.1:p.Arg386His
ENST00000680234.1:n.1413G>A
ENST00000680257.1:n.1413G>A
ENST00000680272.1:c.1043G>A	ENSP00000506097.1:p.Arg348His
ENST00000680494.1:n.2581G>A
ENST00000680640.1:n.2108G>A
ENST00000681045.1:n.2037G>A
ENST00000681424.1:n.1512G>A
ENST00000681540.1:n.1413G>A
ENST00000681544.1:n.1488G>A
ENST00000681675.1:n.2037G>A
ENST00000681774.1:n.2379G>A
ENST00000324460.6:c.1157G>A	ENSP00000324173.6:p.Arg386His
NM_005347.4:c.1157G>A	NP_005338.1:p.Arg386His
NM_005347.5:c.1157G>A MANE Select	NP_005338.1:p.Arg386His