Canonical Allele Identifier: CA362161253

Gene: NKX2-5

Linked Data

• MyVariant Identifiers: chr5:g.172659804T>G (hg19) ; chr5:g.173232801T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232801T>G , CM000667.2:g.173232801T>G	GRCh38
NC_000005.9:g.172659804T>G , CM000667.1:g.172659804T>G	GRCh37
NC_000005.8:g.172592410T>G	NCBI36
NG_013340.1:g.7512A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.743A>C MANE Select	ENSP00000327758.4:p.Tyr248Ser
ENST00000329198.4:c.743A>C	ENSP00000327758.4:p.Tyr248Ser
NM_001166175.1:c.*696A>C	NP_001159647.1:n.*696A>C
NM_001166176.1:c.*542A>C	NP_001159648.1:n.*542A>C
NM_004387.3:c.743A>C	NP_004378.1:p.Tyr248Ser
NM_004387.4:c.743A>C MANE Select	NP_004378.1:p.Tyr248Ser
NM_001166175.2:c.*696A>C	NP_001159647.1:n.*696A>C
NM_001166176.2:c.*542A>C	NP_001159648.1:n.*542A>C