Canonical Allele Identifier: CA3725880
Gene: SLC44A4 HGNC NCBI
EHMT2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31878964C>A , CM000668.2:g.31878964C>A GRCh38
NC_000006.11:g.31846741C>A , CM000668.1:g.31846741C>A GRCh37
NC_000006.10:g.31954720C>A NCBI36
NG_023058.1:g.5083G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229729.11:c.17G>T (SLC44A4) MANE Select ENSP00000229729.6:p.Arg6Leu
ENST00000229729.10:c.17G>T (SLC44A4) ENSP00000229729.6:p.Arg6Leu
ENST00000375562.8:c.17G>T (SLC44A4) ENSP00000364712.4:p.Arg6Leu
ENST00000414427.1:c.4G>T (SLC44A4)
ENST00000462671.1:n.34G>T (SLC44A4)
ENST00000465707.5:n.34G>T (SLC44A4)
NM_001178044.1:c.17G>T (SLC44A4) NP_001171515.1:p.Arg6Leu
NM_025257.2:c.17G>T (SLC44A4) NP_079533.2:p.Arg6Leu
NM_025257.3:c.17G>T (SLC44A4) MANE Select NP_079533.2:p.Arg6Leu
NM_001178044.2:c.17G>T (SLC44A4) NP_001171515.1:p.Arg6Leu
NR_174947.1:n.271+886C>A (EHMT2-AS1)