Canonical Allele Identifier: CA1640276

Gene: SLC3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44286063T>C , CM000664.2:g.44286063T>C	GRCh38
NC_000002.11:g.44513202T>C , CM000664.1:g.44513202T>C	GRCh37
NC_000002.10:g.44366706T>C	NCBI36
NG_008233.1:g.15606T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000341.4:c.797T>C MANE Select	NP_000332.2:p.Phe266Ser
ENST00000260649.11:c.797T>C MANE Select	ENSP00000260649.6:p.Phe266Ser
NM_000341.3:c.797T>C	NP_000332.2:p.Phe266Ser
ENST00000260649.10:c.797T>C	ENSP00000260649.6:p.Phe266Ser
ENST00000409229.7:c.797T>C	ENSP00000386620.3:p.Phe266Ser
ENST00000409380.5:c.-38T>C	ENSP00000386709.1:n.-38T>C
ENST00000409387.5:c.797T>C	ENSP00000387308.1:p.Phe266Ser
ENST00000409741.5:c.797T>C	ENSP00000386954.1:p.Phe266Ser
ENST00000410056.7:c.797T>C	ENSP00000387337.3:p.Phe266Ser
ENST00000427285.1:c.131T>C	ENSP00000391642.1:p.Phe44Ser
ENST00000611973.4:c.797T>C	ENSP00000483618.1:p.Phe266Ser
ENST00000649044.1:c.*808T>C	ENSP00000497083.1:n.*808T>C
XM_011533047.1:c.797T>C	XP_011531349.1:p.Phe266Ser
XM_011533047.3:c.797T>C	XP_011531349.1:p.Phe266Ser