Canonical Allele Identifier: CA2689098079

Gene: SLC39A4

Linked Data

• gnomAD v4: 8-144414190-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414190C>G , CM000670.2:g.144414190C>G	GRCh38
NC_000008.10:g.145639574C>G , CM000670.1:g.145639574C>G	GRCh37
NC_000008.9:g.145610382C>G	NCBI36
NG_012234.2:g.7701G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1149+72G>C MANE Select	ENSP00000301305.4:n.1149+72G>C
ENST00000276833.9:c.1074+72G>C	ENSP00000276833.5:n.1074+72G>C
ENST00000301305.7:c.1149+72G>C	ENSP00000301305.3:n.1149+72G>C
NM_017767.2:c.1074+72G>C	NP_060237.2:n.1074+72G>C
NM_130849.3:c.1149+72G>C	NP_570901.2:n.1149+72G>C
XM_006716599.1:c.1149+72G>C	XP_006716662.1:n.1149+72G>C
XM_011517153.1:c.867+72G>C	XP_011515455.1:n.867+72G>C
XM_024447188.1:c.867+72G>C	XP_024302956.1:n.867+72G>C
XM_024447189.1:c.867+72G>C	XP_024302957.1:n.867+72G>C
NM_001374839.1:c.867+72G>C	NP_001361768.1:n.867+72G>C
NM_017767.3:c.1074+72G>C	NP_060237.3:n.1074+72G>C
NM_130849.4:c.1149+72G>C MANE Select	NP_570901.3:n.1149+72G>C