Canonical Allele Identifier: CA1578100
Community Standard Title: NM_144631.6(ZNF513):c.219T>C (p.Ser73=)
Gene: ZNF513 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27379047A>G , CM000664.2:g.27379047A>G GRCh38
NC_000002.11:g.27601914A>G , CM000664.1:g.27601914A>G GRCh37
NC_000002.10:g.27455418A>G NCBI36
NG_028219.1:g.6698T>C

Transcript Alleles

HGVS Amino-acid Change
NM_144631.6:c.219T>C MANE Select NP_653232.3:p.Ser73=
ENST00000323703.11:c.219T>C MANE Select ENSP00000318373.6:p.Ser73=
NM_001201459.1:c.33T>C NP_001188388.1:p.Ser11=
NM_001201459.2:c.33T>C NP_001188388.1:p.Ser11=
NM_144631.5:c.219T>C NP_653232.3:p.Ser73=
ENST00000323703.10:c.219T>C ENSP00000318373.6:p.Ser73=
ENST00000407879.1:c.33T>C ENSP00000384874.1:p.Ser11=
ENST00000436006.1:c.33T>C ENSP00000394226.1:p.Ser11=
XM_005264142.1:c.33T>C XP_005264199.1:p.Ser11=
XM_005264142.2:c.33T>C XP_005264199.1:p.Ser11=