Canonical Allele Identifier: CA372625658

Gene: SLC39A4

Linked Data

• gnomAD v4: 8-144416012-C-A
• MyVariant Identifiers: chr8:g.145641396C>A (hg19) ; chr8:g.144416012C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144416012C>A , CM000670.2:g.144416012C>A	GRCh38
NC_000008.10:g.145641396C>A , CM000670.1:g.145641396C>A	GRCh37
NC_000008.9:g.145612204C>A	NCBI36
NG_012234.2:g.5879G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301305.8:c.272G>T MANE Select	ENSP00000301305.4:p.Arg91Met
ENST00000276833.9:c.197G>T	ENSP00000276833.5:p.Arg66Met
ENST00000301305.7:c.272G>T	ENSP00000301305.3:p.Arg91Met
ENST00000526658.1:c.192+586G>T	ENSP00000434512.1:n.192+586G>T
NM_017767.2:c.197G>T	NP_060237.2:p.Arg66Met
NM_130849.3:c.272G>T	NP_570901.2:p.Arg91Met
XM_006716599.1:c.272G>T	XP_006716662.1:p.Arg91Met
XM_011517153.1:c.192+586G>T	XP_011515455.1:n.192+586G>T
XM_024447188.1:c.192+586G>T	XP_024302956.1:n.192+586G>T
XM_024447189.1:c.192+586G>T	XP_024302957.1:n.192+586G>T
NM_001374839.1:c.192+586G>T	NP_001361768.1:n.192+586G>T
NM_017767.3:c.197G>T	NP_060237.3:p.Arg66Met
NM_130849.4:c.272G>T MANE Select	NP_570901.3:p.Arg91Met