Canonical Allele Identifier: CA372625303
Community Standard Title: NM_130849.4(SLC39A4):c.340G>T (p.Ala114Ser)
Gene: SLC39A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144415944C>A , CM000670.2:g.144415944C>A GRCh38
NC_000008.10:g.145641328C>A , CM000670.1:g.145641328C>A GRCh37
NC_000008.9:g.145612136C>A NCBI36
NG_012234.2:g.5947G>T

Transcript Alleles

HGVS Amino-acid Change
NM_130849.4:c.340G>T MANE Select NP_570901.3:p.Ala114Ser
ENST00000301305.8:c.340G>T MANE Select ENSP00000301305.4:p.Ala114Ser
NM_001374839.1:c.193-525G>T NP_001361768.1:n.193-525G>T
NM_017767.2:c.265G>T NP_060237.2:p.Ala89Ser
NM_017767.3:c.265G>T NP_060237.3:p.Ala89Ser
NM_130849.3:c.340G>T NP_570901.2:p.Ala114Ser
ENST00000276833.9:c.265G>T ENSP00000276833.5:p.Ala89Ser
ENST00000301305.7:c.340G>T ENSP00000301305.3:p.Ala114Ser
ENST00000526658.1:c.193-525G>T ENSP00000434512.1:n.193-525G>T
XM_006716599.1:c.340G>T XP_006716662.1:p.Ala114Ser
XM_011517153.1:c.193-525G>T XP_011515455.1:n.193-525G>T
XM_024447188.1:c.193-525G>T XP_024302956.1:n.193-525G>T
XM_024447189.1:c.193-525G>T XP_024302957.1:n.193-525G>T