Canonical Allele Identifier: CA363375201

Gene: SLC44A4

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31871532C>A , CM000668.2:g.31871532C>A	GRCh38
NC_000006.11:g.31839309C>A , CM000668.1:g.31839309C>A	GRCh37
NC_000006.10:g.31947288C>A	NCBI36
NG_023058.1:g.12515G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229729.11:c.559G>T MANE Select	ENSP00000229729.6:p.Val187Phe
ENST00000229729.10:c.559G>T	ENSP00000229729.6:p.Val187Phe
ENST00000375562.8:c.433G>T	ENSP00000364712.4:p.Val145Phe
ENST00000414427.1:c.546G>T
ENST00000544672.5:c.331G>T	ENSP00000444109.1:p.Val111Phe
NM_001178044.1:c.433G>T	NP_001171515.1:p.Val145Phe
NM_001178045.1:c.331G>T	NP_001171516.1:p.Val111Phe
NM_025257.2:c.559G>T	NP_079533.2:p.Val187Phe
NM_025257.3:c.559G>T MANE Select	NP_079533.2:p.Val187Phe
NM_001178044.2:c.433G>T	NP_001171515.1:p.Val145Phe
NM_001178045.2:c.331G>T	NP_001171516.1:p.Val111Phe