Canonical Allele Identifier: CA363375203

Gene: SLC44A4

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229729.11:c.559G>C MANE Select	ENSP00000229729.6:p.Val187Leu
ENST00000229729.10:c.559G>C	ENSP00000229729.6:p.Val187Leu
ENST00000375562.8:c.433G>C	ENSP00000364712.4:p.Val145Leu
ENST00000414427.1:c.546G>C
ENST00000544672.5:c.331G>C	ENSP00000444109.1:p.Val111Leu
NM_001178044.1:c.433G>C	NP_001171515.1:p.Val145Leu
NM_001178045.1:c.331G>C	NP_001171516.1:p.Val111Leu
NM_025257.2:c.559G>C	NP_079533.2:p.Val187Leu
NM_025257.3:c.559G>C MANE Select	NP_079533.2:p.Val187Leu
NM_001178044.2:c.433G>C	NP_001171515.1:p.Val145Leu
NM_001178045.2:c.331G>C	NP_001171516.1:p.Val111Leu