Canonical Allele Identifier: CA372620220

Gene: SLC39A4

Linked Data

• gnomAD v4: 8-144414083-G-A
• MyVariant Identifiers: chr8:g.145639467G>A (hg19) ; chr8:g.144414083G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414083G>A , CM000670.2:g.144414083G>A	GRCh38
NC_000008.10:g.145639467G>A , CM000670.1:g.145639467G>A	GRCh37
NC_000008.9:g.145610275G>A	NCBI36
NG_012234.2:g.7808C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1162C>T MANE Select	ENSP00000301305.4:p.His388Tyr
ENST00000276833.9:c.1087C>T	ENSP00000276833.5:p.His363Tyr
ENST00000301305.7:c.1162C>T	ENSP00000301305.3:p.His388Tyr
NM_017767.2:c.1087C>T	NP_060237.2:p.His363Tyr
NM_130849.3:c.1162C>T	NP_570901.2:p.His388Tyr
XM_006716599.1:c.1162C>T	XP_006716662.1:p.His388Tyr
XM_011517153.1:c.880C>T	XP_011515455.1:p.His294Tyr
XM_024447188.1:c.880C>T	XP_024302956.1:p.His294Tyr
XM_024447189.1:c.880C>T	XP_024302957.1:p.His294Tyr
NM_001374839.1:c.880C>T	NP_001361768.1:p.His294Tyr
NM_017767.3:c.1087C>T	NP_060237.3:p.His363Tyr
NM_130849.4:c.1162C>T MANE Select	NP_570901.3:p.His388Tyr