Canonical Allele Identifier: CA499927581

Gene: GSDMA

Linked Data

• gnomAD v4: 17-39965777-C-T
• COSMIC: COSM4894809 ; COSM4894810
• MyVariant Identifiers: chr17:g.38122030C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39965777C>T , CM000679.2:g.39965777C>T	GRCh38
NC_000017.10:g.38122030C>T , CM000679.1:g.38122030C>T	GRCh37
NC_000017.9:g.35375556C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301659.9:c.90C>T MANE Select	ENSP00000301659.4:p.Phe30=
ENST00000635792.1:c.90C>T	ENSP00000490739.1:p.Phe30=
ENST00000301659.8:c.90C>T	ENSP00000301659.4:p.Phe30=
ENST00000577447.1:c.90C>T	ENSP00000461985.1:p.Phe30=
NM_178171.4:c.90C>T	NP_835465.2:p.Phe30=
XM_006721832.2:c.90C>T	XP_006721895.1:p.Phe30=
XM_006721832.3:c.90C>T	XP_006721895.1:p.Phe30=
XM_017024502.2:c.90C>T	XP_016879991.1:p.Phe30=
XM_017024503.1:c.90C>T	XP_016879992.1:p.Phe30=
XM_017024504.2:c.90C>T	XP_016879993.1:p.Phe30=
NM_178171.5:c.90C>T MANE Select	NP_835465.2:p.Phe30=