Canonical Allele Identifier: CA374897514

Gene: HSPA5

Linked Data

• dbSNP Id: rs1368629912
• gnomAD v2: 9-128001042-G-A
• gnomAD v3: 9-125238763-G-A
• gnomAD v4: 9-125238763-G-A
• MyVariant Identifiers: chr9:g.128001042G>A (hg19) ; chr9:g.125238763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.125238763G>A , CM000671.2:g.125238763G>A	GRCh38
NC_000009.11:g.128001042G>A , CM000671.1:g.128001042G>A	GRCh37
NC_000009.10:g.127040863G>A	NCBI36
NG_027761.1:g.7625C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324460.7:c.1061C>T MANE Select	ENSP00000324173.6:p.Ser354Phe
ENST00000679355.1:n.1416C>T
ENST00000679475.1:n.1645C>T
ENST00000680032.1:c.1061C>T	ENSP00000506285.1:p.Ser354Phe
ENST00000680234.1:n.1317C>T
ENST00000680257.1:n.1317C>T
ENST00000680272.1:c.997-50C>T	ENSP00000506097.1:n.997-50C>T
ENST00000680494.1:n.2485C>T
ENST00000680640.1:n.2012C>T
ENST00000681045.1:n.1941C>T
ENST00000681424.1:n.1416C>T
ENST00000681540.1:n.1317C>T
ENST00000681544.1:n.1392C>T
ENST00000681675.1:n.1941C>T
ENST00000681774.1:n.2283C>T
ENST00000324460.6:c.1061C>T	ENSP00000324173.6:p.Ser354Phe
NM_005347.4:c.1061C>T	NP_005338.1:p.Ser354Phe
NM_005347.5:c.1061C>T MANE Select	NP_005338.1:p.Ser354Phe