Canonical Allele Identifier: CA372624907
Community Standard Title: NM_130849.4(SLC39A4):c.475-2A>G
Gene: SLC39A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144415421T>C , CM000670.2:g.144415421T>C GRCh38
NC_000008.10:g.145640805T>C , CM000670.1:g.145640805T>C GRCh37
NC_000008.9:g.145611613T>C NCBI36
NG_012234.2:g.6470A>G

Transcript Alleles

HGVS Amino-acid Change
NM_130849.4:c.475-2A>G MANE Select NP_570901.3:n.475-2A>G
ENST00000301305.8:c.475-2A>G MANE Select ENSP00000301305.4:n.475-2A>G
NM_001374839.1:c.193-2A>G NP_001361768.1:n.193-2A>G
NM_017767.2:c.400-2A>G NP_060237.2:n.400-2A>G
NM_017767.3:c.400-2A>G NP_060237.3:n.400-2A>G
NM_130849.3:c.475-2A>G NP_570901.2:n.475-2A>G
ENST00000276833.9:c.400-2A>G ENSP00000276833.5:n.400-2A>G
ENST00000301305.7:c.475-2A>G ENSP00000301305.3:n.475-2A>G
ENST00000526658.1:c.193-2A>G ENSP00000434512.1:n.193-2A>G
XM_006716599.1:c.475-2A>G XP_006716662.1:n.475-2A>G
XM_011517153.1:c.193-2A>G XP_011515455.1:n.193-2A>G
XM_024447188.1:c.193-2A>G XP_024302956.1:n.193-2A>G
XM_024447189.1:c.193-2A>G XP_024302957.1:n.193-2A>G