Canonical Allele Identifier: CA499927572

Gene: GSDMA

Linked Data

• MyVariant Identifiers: chr17:g.38122012T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39965759T>C , CM000679.2:g.39965759T>C	GRCh38
NC_000017.10:g.38122012T>C , CM000679.1:g.38122012T>C	GRCh37
NC_000017.9:g.35375538T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301659.9:c.72T>C MANE Select	ENSP00000301659.4:p.Leu24=
ENST00000635792.1:c.72T>C	ENSP00000490739.1:p.Leu24=
ENST00000301659.8:c.72T>C	ENSP00000301659.4:p.Leu24=
ENST00000577447.1:c.72T>C	ENSP00000461985.1:p.Leu24=
NM_178171.4:c.72T>C	NP_835465.2:p.Leu24=
XM_006721832.2:c.72T>C	XP_006721895.1:p.Leu24=
XM_006721832.3:c.72T>C	XP_006721895.1:p.Leu24=
XM_017024502.2:c.72T>C	XP_016879991.1:p.Leu24=
XM_017024503.1:c.72T>C	XP_016879992.1:p.Leu24=
XM_017024504.2:c.72T>C	XP_016879993.1:p.Leu24=
NM_178171.5:c.72T>C MANE Select	NP_835465.2:p.Leu24=