Canonical Allele Identifier: CA372621320

Gene: SLC39A4

Linked Data

• gnomAD v4: 8-144414387-C-A
• MyVariant Identifiers: chr8:g.145639771C>A (hg19) ; chr8:g.144414387C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414387C>A , CM000670.2:g.144414387C>A	GRCh38
NC_000008.10:g.145639771C>A , CM000670.1:g.145639771C>A	GRCh37
NC_000008.9:g.145610579C>A	NCBI36
NG_012234.2:g.7504G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1024G>T MANE Select	ENSP00000301305.4:p.Val342Phe
ENST00000276833.9:c.949G>T	ENSP00000276833.5:p.Val317Phe
ENST00000301305.7:c.1024G>T	ENSP00000301305.3:p.Val342Phe
NM_017767.2:c.949G>T	NP_060237.2:p.Val317Phe
NM_130849.3:c.1024G>T	NP_570901.2:p.Val342Phe
XM_006716599.1:c.1024G>T	XP_006716662.1:p.Val342Phe
XM_011517153.1:c.742G>T	XP_011515455.1:p.Val248Phe
XM_024447188.1:c.742G>T	XP_024302956.1:p.Val248Phe
XM_024447189.1:c.742G>T	XP_024302957.1:p.Val248Phe
NM_001374839.1:c.742G>T	NP_001361768.1:p.Val248Phe
NM_017767.3:c.949G>T	NP_060237.3:p.Val317Phe
NM_130849.4:c.1024G>T MANE Select	NP_570901.3:p.Val342Phe