Canonical Allele Identifier: CA372619887

Gene: SLC39A4

Linked Data

• dbSNP Id: rs1822040594
• gnomAD v4: 8-144414025-A-G
• MyVariant Identifiers: chr8:g.145639409A>G (hg19) ; chr8:g.144414025A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414025A>G , CM000670.2:g.144414025A>G	GRCh38
NC_000008.10:g.145639409A>G , CM000670.1:g.145639409A>G	GRCh37
NC_000008.9:g.145610217A>G	NCBI36
NG_012234.2:g.7866T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1220T>C MANE Select	ENSP00000301305.4:p.Leu407Pro
ENST00000276833.9:c.1145T>C	ENSP00000276833.5:p.Leu382Pro
ENST00000301305.7:c.1220T>C	ENSP00000301305.3:p.Leu407Pro
ENST00000531789.1:n.57T>C
NM_017767.2:c.1145T>C	NP_060237.2:p.Leu382Pro
NM_130849.3:c.1220T>C	NP_570901.2:p.Leu407Pro
XM_006716599.1:c.1220T>C	XP_006716662.1:p.Leu407Pro
XM_011517153.1:c.938T>C	XP_011515455.1:p.Leu313Pro
XM_024447188.1:c.938T>C	XP_024302956.1:p.Leu313Pro
XM_024447189.1:c.938T>C	XP_024302957.1:p.Leu313Pro
NM_001374839.1:c.938T>C	NP_001361768.1:p.Leu313Pro
NM_017767.3:c.1145T>C	NP_060237.3:p.Leu382Pro
NM_130849.4:c.1220T>C MANE Select	NP_570901.3:p.Leu407Pro