Canonical Allele Identifier: CA1619348048
Gene: SLC44A4 HGNC NCBI
EHMT2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31878208T>G , CM000668.2:g.31878208T>G GRCh38
NC_000006.11:g.31845985T>G , CM000668.1:g.31845985T>G GRCh37
NC_000006.10:g.31953964T>G NCBI36
NG_023058.1:g.5839A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000229729.11:c.40+733A>C (SLC44A4) MANE Select ENSP00000229729.6:n.40+733A>C
ENST00000229729.10:c.40+733A>C (SLC44A4) ENSP00000229729.6:n.40+733A>C
ENST00000375562.8:c.40+733A>C (SLC44A4) ENSP00000364712.4:n.40+733A>C
ENST00000414427.1:c.27+733A>C (SLC44A4)
ENST00000462671.1:n.57+733A>C (SLC44A4)
ENST00000465707.5:n.57+733A>C (SLC44A4)
NM_001178044.1:c.40+733A>C (SLC44A4) NP_001171515.1:n.40+733A>C
NM_025257.2:c.40+733A>C (SLC44A4) NP_079533.2:n.40+733A>C
NM_025257.3:c.40+733A>C (SLC44A4) MANE Select NP_079533.2:n.40+733A>C
NM_001178044.2:c.40+733A>C (SLC44A4) NP_001171515.1:n.40+733A>C
NR_174947.1:n.271+130T>G (EHMT2-AS1)