Canonical Allele Identifier: CA467130312

Gene: HSPA5

Linked Data

• dbSNP Id: rs1275518331
• gnomAD v3: 9-125238753-A-G
• gnomAD v4: 9-125238753-A-G
• MyVariant Identifiers: chr9:g.128001032A>G (hg19) ; chr9:g.125238753A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.125238753A>G , CM000671.2:g.125238753A>G	GRCh38
NC_000009.11:g.128001032A>G , CM000671.1:g.128001032A>G	GRCh37
NC_000009.10:g.127040853A>G	NCBI36
NG_027761.1:g.7635T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324460.7:c.1071T>C MANE Select	ENSP00000324173.6:p.Asp357=
ENST00000679355.1:n.1426T>C
ENST00000679475.1:n.1655T>C
ENST00000680032.1:c.1071T>C	ENSP00000506285.1:p.Asp357=
ENST00000680234.1:n.1327T>C
ENST00000680257.1:n.1327T>C
ENST00000680272.1:c.997-40T>C	ENSP00000506097.1:n.997-40T>C
ENST00000680494.1:n.2495T>C
ENST00000680640.1:n.2022T>C
ENST00000681045.1:n.1951T>C
ENST00000681424.1:n.1426T>C
ENST00000681540.1:n.1327T>C
ENST00000681544.1:n.1402T>C
ENST00000681675.1:n.1951T>C
ENST00000681774.1:n.2293T>C
ENST00000324460.6:c.1071T>C	ENSP00000324173.6:p.Asp357=
NM_005347.4:c.1071T>C	NP_005338.1:p.Asp357=
NM_005347.5:c.1071T>C MANE Select	NP_005338.1:p.Asp357=