Canonical Allele Identifier: CA363370620

Gene: SLC44A4

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229729.11:c.976A>T MANE Select	ENSP00000229729.6:p.Met326Leu
ENST00000229729.10:c.976A>T	ENSP00000229729.6:p.Met326Leu
ENST00000375562.8:c.850A>T	ENSP00000364712.4:p.Met284Leu
ENST00000414427.1:c.688+650A>T
ENST00000475563.1:n.472A>T
ENST00000479777.1:n.391+148A>T
ENST00000544672.5:c.748A>T	ENSP00000444109.1:p.Met250Leu
NM_001178044.1:c.850A>T	NP_001171515.1:p.Met284Leu
NM_001178045.1:c.748A>T	NP_001171516.1:p.Met250Leu
NM_025257.2:c.976A>T	NP_079533.2:p.Met326Leu
NM_025257.3:c.976A>T MANE Select	NP_079533.2:p.Met326Leu
NM_001178044.2:c.850A>T	NP_001171515.1:p.Met284Leu
NM_001178045.2:c.748A>T	NP_001171516.1:p.Met250Leu