Canonical Allele Identifier: CA4941433

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 2509531
• ClinVar RCV Id: RCV003250864
• dbSNP Id: rs573712856
• ExAC: 8:145639807 C / T
• gnomAD v2: 8-145639807-C-T
• gnomAD v3: 8-144414423-C-T
• gnomAD v4: 8-144414423-C-T
• MyVariant Identifiers: chr8:g.145639807C>T (hg19) ; chr8:g.144414423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414423C>T , CM000670.2:g.144414423C>T	GRCh38
NC_000008.10:g.145639807C>T , CM000670.1:g.145639807C>T	GRCh37
NC_000008.9:g.145610615C>T	NCBI36
NG_012234.2:g.7468G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.988G>A MANE Select	ENSP00000301305.4:p.Gly330Ser
ENST00000276833.9:c.913G>A	ENSP00000276833.5:p.Gly305Ser
ENST00000301305.7:c.988G>A	ENSP00000301305.3:p.Gly330Ser
NM_017767.2:c.913G>A	NP_060237.2:p.Gly305Ser
NM_130849.3:c.988G>A	NP_570901.2:p.Gly330Ser
XM_006716599.1:c.988G>A	XP_006716662.1:p.Gly330Ser
XM_011517153.1:c.706G>A	XP_011515455.1:p.Gly236Ser
XM_024447188.1:c.706G>A	XP_024302956.1:p.Gly236Ser
XM_024447189.1:c.706G>A	XP_024302957.1:p.Gly236Ser
NM_001374839.1:c.706G>A	NP_001361768.1:p.Gly236Ser
NM_017767.3:c.913G>A	NP_060237.3:p.Gly305Ser
NM_130849.4:c.988G>A MANE Select	NP_570901.3:p.Gly330Ser