Canonical Allele Identifier: CA1259891366

Gene: MCEE

Linked Data

• ClinVar Variation Id: 1025357
• ClinVar RCV Id: RCV001325660
• dbSNP Id: rs1673178812
• gnomAD v4: 2-71124552-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124552T>C , CM000664.2:g.71124552T>C	GRCh38
NC_000002.11:g.71351682T>C , CM000664.1:g.71351682T>C	GRCh37
NC_000002.10:g.71205190T>C	NCBI36
NG_008977.1:g.10713A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.41-9A>G MANE Select	ENSP00000244217.5:n.41-9A>G
ENST00000244217.5:c.41-9A>G	ENSP00000244217.5:n.41-9A>G
ENST00000486135.1:c.-245-9A>G	ENSP00000441569.1:n.-245-9A>G
ENST00000494660.6:c.-245-9A>G	ENSP00000437361.1:n.-245-9A>G
NM_032601.3:c.41-9A>G	NP_115990.3:n.41-9A>G
XM_005264613.2:c.41-9A>G	XP_005264670.1:n.41-9A>G
XR_939729.1:n.110-9A>G
XR_939729.2:n.110-9A>G
NM_032601.4:c.41-9A>G MANE Select	NP_115990.3:n.41-9A>G