Canonical Allele Identifier: CA372625669

Gene: SLC39A4

Linked Data

• gnomAD v4: 8-144416013-T-A
• MyVariant Identifiers: chr8:g.145641397T>A (hg19) ; chr8:g.144416013T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144416013T>A , CM000670.2:g.144416013T>A	GRCh38
NC_000008.10:g.145641397T>A , CM000670.1:g.145641397T>A	GRCh37
NC_000008.9:g.145612205T>A	NCBI36
NG_012234.2:g.5878A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.271A>T MANE Select	ENSP00000301305.4:p.Arg91Trp
ENST00000276833.9:c.196A>T	ENSP00000276833.5:p.Arg66Trp
ENST00000301305.7:c.271A>T	ENSP00000301305.3:p.Arg91Trp
ENST00000526658.1:c.192+585A>T	ENSP00000434512.1:n.192+585A>T
NM_017767.2:c.196A>T	NP_060237.2:p.Arg66Trp
NM_130849.3:c.271A>T	NP_570901.2:p.Arg91Trp
XM_006716599.1:c.271A>T	XP_006716662.1:p.Arg91Trp
XM_011517153.1:c.192+585A>T	XP_011515455.1:n.192+585A>T
XM_024447188.1:c.192+585A>T	XP_024302956.1:n.192+585A>T
XM_024447189.1:c.192+585A>T	XP_024302957.1:n.192+585A>T
NM_001374839.1:c.192+585A>T	NP_001361768.1:n.192+585A>T
NM_017767.3:c.196A>T	NP_060237.3:p.Arg66Trp
NM_130849.4:c.271A>T MANE Select	NP_570901.3:p.Arg91Trp