Canonical Allele Identifier: CA4941435

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 2461345
• ClinVar RCV Id: RCV003196273
• dbSNP Id: rs781937891
• ExAC: 8:145639809 T / G
• gnomAD v2: 8-145639809-T-G
• gnomAD v3: 8-144414425-T-G
• gnomAD v4: 8-144414425-T-G
• MyVariant Identifiers: chr8:g.145639809T>G (hg19) ; chr8:g.144414425T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414425T>G , CM000670.2:g.144414425T>G	GRCh38
NC_000008.10:g.145639809T>G , CM000670.1:g.145639809T>G	GRCh37
NC_000008.9:g.145610617T>G	NCBI36
NG_012234.2:g.7466A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.986A>C MANE Select	ENSP00000301305.4:p.Tyr329Ser
ENST00000276833.9:c.911A>C	ENSP00000276833.5:p.Tyr304Ser
ENST00000301305.7:c.986A>C	ENSP00000301305.3:p.Tyr329Ser
NM_017767.2:c.911A>C	NP_060237.2:p.Tyr304Ser
NM_130849.3:c.986A>C	NP_570901.2:p.Tyr329Ser
XM_006716599.1:c.986A>C	XP_006716662.1:p.Tyr329Ser
XM_011517153.1:c.704A>C	XP_011515455.1:p.Tyr235Ser
XM_024447188.1:c.704A>C	XP_024302956.1:p.Tyr235Ser
XM_024447189.1:c.704A>C	XP_024302957.1:p.Tyr235Ser
NM_001374839.1:c.704A>C	NP_001361768.1:p.Tyr235Ser
NM_017767.3:c.911A>C	NP_060237.3:p.Tyr304Ser
NM_130849.4:c.986A>C MANE Select	NP_570901.3:p.Tyr329Ser