Canonical Allele Identifier: CA338162247

Gene: SLC45A1

Linked Data

• MyVariant Identifiers: chr1:g.8385919A>C (hg19) ; chr1:g.8325859A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8325859A>C , CM000663.2:g.8325859A>C	GRCh38
NC_000001.10:g.8385919A>C , CM000663.1:g.8385919A>C	GRCh37
NC_000001.9:g.8308506A>C	NCBI36
NG_034025.1:g.12775A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471889.7:c.532A>C MANE Select	ENSP00000418096.3:p.Ile178Leu
ENST00000289877.8:c.532A>C	ENSP00000289877.8:p.Ile178Leu
ENST00000471889.5:c.634A>C	ENSP00000418096.2:p.Ile212Leu
NM_001080397.2:c.634A>C	NP_001073866.2:p.Ile212Leu
XM_011541530.1:c.634A>C	XP_011539832.1:p.Ile212Leu
XM_011541531.1:c.541A>C	XP_011539833.1:p.Ile181Leu
XM_011541530.2:c.634A>C	XP_011539832.1:p.Ile212Leu
XM_011541531.2:c.541A>C	XP_011539833.1:p.Ile181Leu
XM_024447371.1:c.541A>C	XP_024303139.1:p.Ile181Leu
XM_024447372.1:c.-75A>C	XP_024303140.1:n.-75A>C
NM_001080397.3:c.532A>C MANE Select	NP_001073866.3:p.Ile178Leu
NM_001379614.1:c.532A>C	NP_001366543.1:p.Ile178Leu
NM_001379615.1:c.439A>C	NP_001366544.1:p.Ile147Leu
NM_001379616.1:c.439A>C	NP_001366545.1:p.Ile147Leu
NM_001379617.1:c.-75A>C	NP_001366546.1:n.-75A>C
NM_001379618.1:c.-75A>C	NP_001366547.1:n.-75A>C