Canonical Allele Identifier: CA4941776
Community Standard Title: NM_130849.4(SLC39A4):c.193-8G>C
Gene: SLC39A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144416099C>G , CM000670.2:g.144416099C>G GRCh38
NC_000008.10:g.145641483C>G , CM000670.1:g.145641483C>G GRCh37
NC_000008.9:g.145612291C>G NCBI36
NG_012234.2:g.5792G>C

Transcript Alleles

HGVS Amino-acid Change
NM_130849.4:c.193-8G>C MANE Select NP_570901.3:n.193-8G>C
ENST00000301305.8:c.193-8G>C MANE Select ENSP00000301305.4:n.193-8G>C
NM_001374839.1:c.192+499G>C NP_001361768.1:n.192+499G>C
NM_017767.2:c.110G>C NP_060237.2:p.Cys37Ser
NM_017767.3:c.110G>C NP_060237.3:p.Cys37Ser
NM_130849.3:c.193-8G>C NP_570901.2:n.193-8G>C
ENST00000276833.9:c.110G>C ENSP00000276833.5:p.Cys37Ser
ENST00000301305.7:c.193-8G>C ENSP00000301305.3:n.193-8G>C
ENST00000526658.1:c.192+499G>C ENSP00000434512.1:n.192+499G>C
XM_006716599.1:c.193-8G>C XP_006716662.1:n.193-8G>C
XM_011517153.1:c.192+499G>C XP_011515455.1:n.192+499G>C
XM_024447188.1:c.192+499G>C XP_024302956.1:n.192+499G>C
XM_024447189.1:c.192+499G>C XP_024302957.1:n.192+499G>C