Canonical Allele Identifier: CA691360550
Gene: EMG1 HGNC NCBI

Linked Data

dbSNP Id: rs1270117376
gnomAD v3: 12-6974234-T-G
gnomAD v4: 12-6974234-T-G
MyVariant Identifiers: chr12:g.6974234T>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6974234T>G , CM000674.2:g.6974234T>G GRCh38
NC_000012.11:g.7083396T>G , CM000674.1:g.7083396T>G GRCh37
NC_000012.10:g.6953657T>G NCBI36
NG_021408.1:g.8454T>G
NG_021408.2:g.8454T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000599672.6:c.169-105T>G MANE Select ENSP00000470560.1:n.169-105T>G
ENST00000261406.7:c.151-105T>G ENSP00000476966.2:n.151-105T>G
ENST00000539196.2:c.32-105T>G
ENST00000599672.5:c.169-105T>G ENSP00000470560.1:n.169-105T>G
ENST00000607161.5:c.172-105T>G ENSP00000480420.1:n.172-105T>G
ENST00000611981.1:n.180-105T>G
ENST00000620255.1:n.158-105T>G
NM_006331.7:c.169-105T>G NP_006322.4:n.169-105T>G
XM_011520907.1:c.169-105T>G XP_011519209.1:n.169-105T>G
NM_001320049.1:c.169-105T>G NP_001306978.1:n.169-105T>G
NR_135131.1:n.312-105T>G
NM_006331.8:c.169-105T>G MANE Select NP_006322.4:n.169-105T>G
NM_001320049.2:c.169-105T>G NP_001306978.1:n.169-105T>G
NR_135131.2:n.180-105T>G