Canonical Allele Identifier: CA13620544

Gene: SLC48A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47779569T>C , CM000674.2:g.47779569T>C	GRCh38
NC_000012.11:g.48173352T>C , CM000674.1:g.48173352T>C	GRCh37
NC_000012.10:g.46459619T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442218.3:c.304+374T>C MANE Select	ENSP00000415998.2:n.304+374T>C
ENST00000442218.2:c.304+374T>C	ENSP00000415998.2:n.304+374T>C
ENST00000442892.2:c.133+374T>C	ENSP00000410134.2:n.133+374T>C
ENST00000547002.5:c.133+374T>C	ENSP00000446739.1:n.133+374T>C
ENST00000551301.1:c.*141+374T>C	ENSP00000449036.1:n.*141+374T>C
NM_017842.2:c.304+374T>C	NP_060312.2:n.304+374T>C
XM_005269016.3:c.385+374T>C	XP_005269073.1:n.385+374T>C
XM_011538557.1:c.418+374T>C	XP_011536859.1:n.418+374T>C
XM_011538558.1:c.418+374T>C	XP_011536860.1:n.418+374T>C
XM_005269016.4:c.385+374T>C	XP_005269073.1:n.385+374T>C
XM_017019612.1:c.-82+374T>C	XP_016875101.1:n.-82+374T>C
XM_017019614.2:c.-82+374T>C	XP_016875103.1:n.-82+374T>C
XM_017019617.2:c.304+374T>C	XP_016875106.1:n.304+374T>C
XM_024449045.1:c.418+374T>C	XP_024304813.1:n.418+374T>C
XM_024449046.1:c.418+374T>C	XP_024304814.1:n.418+374T>C
NM_017842.3:c.304+374T>C MANE Select	NP_060312.2:n.304+374T>C