Canonical Allele Identifier: CA14448879
Gene: GSDMA HGNC NCBI
COSMIC:
COSN165418 (not active)
MyVariant.info:
GRCh38 chr17:g.39972395C>T
GRCh37 chr17:g.38128648C>T
gnomAD v2:
17:38128648 C / T
gnomAD v3:
17:39972395 C / T
gnomAD v4:
chr17-39972395-C-T
Joint Max Group AF 0.48259831 (EAS)
Genomes Max Group AF 0.48259831 (EAS)
dbSNP:
3859192
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39972395C>T , CM000679.2:g.39972395C>T GRCh38
NC_000017.10:g.38128648C>T , CM000679.1:g.38128648C>T GRCh37
NC_000017.9:g.35382174C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000301659.9:c.704-192C>T MANE Select ENSP00000301659.4:n.704-192C>T
ENST00000635792.1:c.704-192C>T ENSP00000490739.1:n.704-192C>T
ENST00000301659.8:c.704-192C>T ENSP00000301659.4:n.704-192C>T
NM_178171.4:c.704-192C>T NP_835465.2:n.704-192C>T
XM_006721832.2:c.704-192C>T XP_006721895.1:n.704-192C>T
XM_011524651.1:c.278-192C>T XP_011522953.1:n.278-192C>T
XM_006721832.3:c.704-192C>T XP_006721895.1:n.704-192C>T
XM_011524651.3:c.278-192C>T XP_011522953.1:n.278-192C>T
XM_017024502.2:c.703+219C>T XP_016879991.1:n.703+219C>T
XM_017024503.1:c.704-192C>T XP_016879992.1:n.704-192C>T
XM_017024504.2:c.703+219C>T XP_016879993.1:n.703+219C>T
NM_178171.5:c.704-192C>T MANE Select NP_835465.2:n.704-192C>T
Search 100 bp 5'
Search 100 bp 3'