Canonical Allele Identifier: CA10621413
Community Standard Title: NM_003052.5(SLC34A1):c.*202A>C
Gene: SLC34A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177398488A>C , CM000667.2:g.177398488A>C GRCh38
NC_000005.9:g.176825489A>C , CM000667.1:g.176825489A>C GRCh37
NC_000005.8:g.176758095A>C NCBI36
NG_016223.1:g.19058A>C

Transcript Alleles

HGVS Amino-acid Change
NM_003052.5:c.*202A>C MANE Select NP_003043.3:n.*202A>C
ENST00000324417.6:c.*202A>C MANE Select ENSP00000321424.4:n.*202A>C
NM_003052.4:c.*202A>C NP_003043.3:n.*202A>C
ENST00000324417.5:c.*202A>C ENSP00000321424.4:n.*202A>C
ENST00000513614.1:n.2564A>C
XM_005265975.1:c.*202A>C XP_005266032.1:n.*202A>C
XM_017009773.2:c.1416+1414A>C XP_016865262.1:n.1416+1414A>C
XM_017009774.1:c.*202A>C XP_016865263.1:n.*202A>C
XM_024446191.1:c.*202A>C XP_024301959.1:n.*202A>C
XR_941112.1:n.3555A>C
XR_941112.2:n.3609A>C