Canonical Allele Identifier: CA2259332068
Gene: GSDMA HGNC NCBI

Linked Data

dbSNP Id: rs1170067609
gnomAD v4: 17-39965437-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39965437G>A , CM000679.2:g.39965437G>A GRCh38
NC_000017.10:g.38121690G>A , CM000679.1:g.38121690G>A GRCh37
NC_000017.9:g.35375216G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000301659.9:c.-5-246G>A MANE Select ENSP00000301659.4:n.-5-246G>A
ENST00000635792.1:c.-5-246G>A ENSP00000490739.1:n.-5-246G>A
ENST00000301659.8:c.-5-246G>A ENSP00000301659.4:n.-5-246G>A
NM_178171.4:c.-5-246G>A NP_835465.2:n.-5-246G>A
XM_017024502.2:c.-5-246G>A XP_016879991.1:n.-5-246G>A
XM_017024503.1:c.-5-246G>A XP_016879992.1:n.-5-246G>A
XM_017024504.2:c.-5-246G>A XP_016879993.1:n.-5-246G>A
NM_178171.5:c.-5-246G>A MANE Select NP_835465.2:n.-5-246G>A
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