Canonical Allele Identifier: CA1619335554
Gene: SLC44A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31870664T= , CM000668.2:g.31870664T= GRCh38
NC_000006.11:g.31838441T= , CM000668.1:g.31838441T= GRCh37
NC_000006.10:g.31946420T= NCBI36
NG_023058.1:g.13383A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000229729.11:c.976A= MANE Select ENSP00000229729.6:p.Met326=
ENST00000229729.10:c.976A= ENSP00000229729.6:p.Met326=
ENST00000375562.8:c.850A= ENSP00000364712.4:p.Met284=
ENST00000414427.1:c.688+650A=
ENST00000475563.1:n.472A=
ENST00000479777.1:n.391+148A=
ENST00000544672.5:c.748A= ENSP00000444109.1:p.Met250=
NM_001178044.1:c.850A= NP_001171515.1:p.Met284=
NM_001178045.1:c.748A= NP_001171516.1:p.Met250=
NM_025257.2:c.976A= NP_079533.2:p.Met326=
NM_025257.3:c.976A= MANE Select NP_079533.2:p.Met326=
NM_001178044.2:c.850A= NP_001171515.1:p.Met284=
NM_001178045.2:c.748A= NP_001171516.1:p.Met250=