Canonical Allele Identifier: CA372619991

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 1386590
• ClinVar RCV Id: RCV001881535
• dbSNP Id: rs2130796764
• MyVariant Identifiers: chr8:g.145639427C>T (hg19) ; chr8:g.144414043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414043C>T , CM000670.2:g.144414043C>T	GRCh38
NC_000008.10:g.145639427C>T , CM000670.1:g.145639427C>T	GRCh37
NC_000008.9:g.145610235C>T	NCBI36
NG_012234.2:g.7848G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1202G>A MANE Select	ENSP00000301305.4:p.Trp401Ter
ENST00000276833.9:c.1127G>A	ENSP00000276833.5:p.Trp376Ter
ENST00000301305.7:c.1202G>A	ENSP00000301305.3:p.Trp401Ter
ENST00000531789.1:n.39G>A
NM_017767.2:c.1127G>A	NP_060237.2:p.Trp376Ter
NM_130849.3:c.1202G>A	NP_570901.2:p.Trp401Ter
XM_006716599.1:c.1202G>A	XP_006716662.1:p.Trp401Ter
XM_011517153.1:c.920G>A	XP_011515455.1:p.Trp307Ter
XM_024447188.1:c.920G>A	XP_024302956.1:p.Trp307Ter
XM_024447189.1:c.920G>A	XP_024302957.1:p.Trp307Ter
NM_001374839.1:c.920G>A	NP_001361768.1:p.Trp307Ter
NM_017767.3:c.1127G>A	NP_060237.3:p.Trp376Ter
NM_130849.4:c.1202G>A MANE Select	NP_570901.3:p.Trp401Ter