Canonical Allele Identifier: CA3580625
Gene: SLC34A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177394059G>T , CM000667.2:g.177394059G>T GRCh38
NC_000005.9:g.176821060G>T , CM000667.1:g.176821060G>T GRCh37
NC_000005.8:g.176753666G>T NCBI36
NG_016223.1:g.14629G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003052.5:c.1038G>T MANE Select NP_003043.3:p.Pro346=
ENST00000324417.6:c.1038G>T MANE Select ENSP00000321424.4:p.Pro346=
NM_003052.4:c.1038G>T NP_003043.3:p.Pro346=
ENST00000324417.5:c.1038G>T ENSP00000321424.4:p.Pro346=
ENST00000507685.5:n.1329G>T
ENST00000513614.1:n.908+296G>T
XM_005265975.1:c.1006+296G>T XP_005266032.1:n.1006+296G>T
XM_017009773.2:c.1038G>T XP_016865262.1:p.Pro346=
XM_017009774.1:c.90G>T XP_016865263.1:p.Pro30=
XM_024446191.1:c.1006+296G>T XP_024301959.1:n.1006+296G>T
XR_941112.1:n.1899+296G>T
XR_941112.2:n.1953+296G>T