Canonical Allele Identifier: CA2259332096

Gene: GSDMA

Linked Data

• dbSNP Id: rs1979606114
• gnomAD v4: 17-39965542-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39965542T>C , CM000679.2:g.39965542T>C	GRCh38
NC_000017.10:g.38121795T>C , CM000679.1:g.38121795T>C	GRCh37
NC_000017.9:g.35375321T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301659.9:c.-5-141T>C MANE Select	ENSP00000301659.4:n.-5-141T>C
ENST00000635792.1:c.-5-141T>C	ENSP00000490739.1:n.-5-141T>C
ENST00000301659.8:c.-5-141T>C	ENSP00000301659.4:n.-5-141T>C
ENST00000577447.1:c.-52T>C	ENSP00000461985.1:n.-52T>C
NM_178171.4:c.-5-141T>C	NP_835465.2:n.-5-141T>C
XM_006721832.2:c.-52T>C	XP_006721895.1:n.-52T>C
XM_006721832.3:c.-52T>C	XP_006721895.1:n.-52T>C
XM_017024502.2:c.-5-141T>C	XP_016879991.1:n.-5-141T>C
XM_017024503.1:c.-5-141T>C	XP_016879992.1:n.-5-141T>C
XM_017024504.2:c.-5-141T>C	XP_016879993.1:n.-5-141T>C
NM_178171.5:c.-5-141T>C MANE Select	NP_835465.2:n.-5-141T>C