Canonical Allele Identifier: CA362160697

Gene: NKX2-5

Linked Data

• MyVariant Identifiers: chr5:g.172659586T>G (hg19) ; chr5:g.173232583T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232583T>G , CM000667.2:g.173232583T>G	GRCh38
NC_000005.9:g.172659586T>G , CM000667.1:g.172659586T>G	GRCh37
NC_000005.8:g.172592192T>G	NCBI36
NG_013340.1:g.7730A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.961A>C MANE Select	ENSP00000327758.4:p.Ile321Leu
ENST00000329198.4:c.961A>C	ENSP00000327758.4:p.Ile321Leu
NM_001166175.1:c.*914A>C	NP_001159647.1:n.*914A>C
NM_001166176.1:c.*760A>C	NP_001159648.1:n.*760A>C
NM_004387.3:c.961A>C	NP_004378.1:p.Ile321Leu
NM_004387.4:c.961A>C MANE Select	NP_004378.1:p.Ile321Leu
NM_001166175.2:c.*914A>C	NP_001159647.1:n.*914A>C
NM_001166176.2:c.*760A>C	NP_001159648.1:n.*760A>C