Canonical Allele Identifier: CA9720439
Gene: MZF1 HGNC NCBI
MZF1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.58563402A>C , CM000681.2:g.58563402A>C GRCh38
NC_000019.9:g.59074769A>C , CM000681.1:g.59074769A>C GRCh37
NC_000019.8:g.63766581A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_198055.2:c.875T>G (MZF1) MANE Select NP_932172.1:p.Ile292Ser
ENST00000215057.7:c.875T>G (MZF1) MANE Select ENSP00000215057.1:p.Ile292Ser
NM_001267033.1:c.773-142T>G (MZF1) NP_001253962.1:n.773-142T>G
NM_001267033.2:c.773-142T>G (MZF1) NP_001253962.1:n.773-142T>G
NM_003422.2:c.875T>G (MZF1) NP_003413.2:p.Ile292Ser
NM_003422.3:c.875T>G (MZF1) NP_003413.2:p.Ile292Ser
NM_198055.1:c.875T>G (MZF1) NP_932172.1:p.Ile292Ser
NR_027334.2:n.224+3993A>C (MZF1-AS1)
ENST00000215057.6:c.875T>G (MZF1) ENSP00000215057.1:p.Ile292Ser
ENST00000594234.5:c.773-142T>G (MZF1) ENSP00000469378.1:n.773-142T>G
ENST00000599369.5:c.875T>G (MZF1) ENSP00000469493.1:p.Ile292Ser
ENST00000600004.1:n.1212T>G (MZF1)
XM_005259204.2:c.998T>G (MZF1) XP_005259261.1:p.Ile333Ser
XM_005259204.3:c.998T>G (MZF1) XP_005259261.1:p.Ile333Ser
XM_006723359.2:c.875T>G (MZF1) XP_006723422.1:p.Ile292Ser
XM_011527264.1:c.965T>G (MZF1) XP_011525566.1:p.Ile322Ser
XM_011527264.3:c.965T>G (MZF1) XP_011525566.1:p.Ile322Ser
XM_011527265.1:c.875T>G (MZF1) XP_011525567.1:p.Ile292Ser
XM_011527266.1:c.830T>G (MZF1) XP_011525568.1:p.Ile277Ser
XM_017027206.1:c.23T>G (MZF1) XP_016882695.1:p.Ile8Ser
XM_024451689.1:c.998T>G (MZF1) XP_024307457.1:p.Ile333Ser