Canonical Allele Identifier: CA187650715

Gene: SLC39A4

Linked Data

• dbSNP Id: rs982626726
• gnomAD v4: 8-144416003-G-T
• MyVariant Identifiers: chr8:g.145641387G>T (hg19) ; chr8:g.144416003G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144416003G>T , CM000670.2:g.144416003G>T	GRCh38
NC_000008.10:g.145641387G>T , CM000670.1:g.145641387G>T	GRCh37
NC_000008.9:g.145612195G>T	NCBI36
NG_012234.2:g.5888C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000301305.8:c.281C>A MANE Select	ENSP00000301305.4:p.Ala94Asp
ENST00000276833.9:c.206C>A	ENSP00000276833.5:p.Ala69Asp
ENST00000301305.7:c.281C>A	ENSP00000301305.3:p.Ala94Asp
ENST00000526658.1:c.193-584C>A	ENSP00000434512.1:n.193-584C>A
NM_017767.2:c.206C>A	NP_060237.2:p.Ala69Asp
NM_130849.3:c.281C>A	NP_570901.2:p.Ala94Asp
XM_006716599.1:c.281C>A	XP_006716662.1:p.Ala94Asp
XM_011517153.1:c.193-584C>A	XP_011515455.1:n.193-584C>A
XM_024447188.1:c.193-584C>A	XP_024302956.1:n.193-584C>A
XM_024447189.1:c.193-584C>A	XP_024302957.1:n.193-584C>A
NM_001374839.1:c.193-584C>A	NP_001361768.1:n.193-584C>A
NM_017767.3:c.206C>A	NP_060237.3:p.Ala69Asp
NM_130849.4:c.281C>A MANE Select	NP_570901.3:p.Ala94Asp