Canonical Allele Identifier: CA367046867

Gene: GSDME

Linked Data

• MyVariant Identifiers: chr7:g.24745818C>G (hg19) ; chr7:g.24706199C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24706199C>G , CM000669.2:g.24706199C>G	GRCh38
NC_000007.13:g.24745818C>G , CM000669.1:g.24745818C>G	GRCh37
NC_000007.12:g.24712343C>G	NCBI36
NG_011593.1:g.56822G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.1168G>C	ENSP00000339587.3:p.Val390Leu
ENST00000409970.6:c.676G>C	ENSP00000387119.1:p.Val226Leu
ENST00000419307.6:c.676G>C	ENSP00000401332.1:p.Val226Leu
ENST00000645220.1:c.1168G>C MANE Select	ENSP00000494186.1:p.Val390Leu
ENST00000342947.7:c.1168G>C	ENSP00000339587.3:p.Val390Leu
ENST00000409775.7:c.1168G>C	ENSP00000386670.3:p.Val390Leu
ENST00000409970.5:c.676G>C	ENSP00000387119.1:p.Val226Leu
ENST00000419307.5:c.676G>C	ENSP00000401332.1:p.Val226Leu
ENST00000430096.1:c.28G>C	ENSP00000395540.1:p.Val10Leu
NM_001127453.1:c.1168G>C	NP_001120925.1:p.Val390Leu
NM_001127454.1:c.676G>C	NP_001120926.1:p.Val226Leu
NM_004403.2:c.1168G>C	NP_004394.1:p.Val390Leu
XM_017011802.1:c.676G>C	XP_016867291.1:p.Val226Leu
XM_024446670.1:c.1168G>C	XP_024302438.1:p.Val390Leu
NM_004403.3:c.1168G>C	NP_004394.1:p.Val390Leu
NM_001127453.2:c.1168G>C MANE Select	NP_001120925.1:p.Val390Leu
NM_001127454.2:c.676G>C	NP_001120926.1:p.Val226Leu