Canonical Allele Identifier: CA399272488

Gene: GSDMA

Linked Data

• gnomAD v4: 17-39965736-C-A
• MyVariant Identifiers: chr17:g.38121989C>A (hg19) ; chr17:g.39965736C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39965736C>A , CM000679.2:g.39965736C>A	GRCh38
NC_000017.10:g.38121989C>A , CM000679.1:g.38121989C>A	GRCh37
NC_000017.9:g.35375515C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301659.9:c.49C>A MANE Select	ENSP00000301659.4:p.Pro17Thr
ENST00000635792.1:c.49C>A	ENSP00000490739.1:p.Pro17Thr
ENST00000301659.8:c.49C>A	ENSP00000301659.4:p.Pro17Thr
ENST00000577447.1:c.49C>A	ENSP00000461985.1:p.Pro17Thr
NM_178171.4:c.49C>A	NP_835465.2:p.Pro17Thr
XM_006721832.2:c.49C>A	XP_006721895.1:p.Pro17Thr
XM_006721832.3:c.49C>A	XP_006721895.1:p.Pro17Thr
XM_017024502.2:c.49C>A	XP_016879991.1:p.Pro17Thr
XM_017024503.1:c.49C>A	XP_016879992.1:p.Pro17Thr
XM_017024504.2:c.49C>A	XP_016879993.1:p.Pro17Thr
NM_178171.5:c.49C>A MANE Select	NP_835465.2:p.Pro17Thr