Canonical Allele Identifier: CA362160993

Gene: NKX2-5

Linked Data

• MyVariant Identifiers: chr5:g.172659672A>G (hg19) ; chr5:g.173232669A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232669A>G , CM000667.2:g.173232669A>G	GRCh38
NC_000005.9:g.172659672A>G , CM000667.1:g.172659672A>G	GRCh37
NC_000005.8:g.172592278A>G	NCBI36
NG_013340.1:g.7644T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.875T>C MANE Select	ENSP00000327758.4:p.Phe292Ser
ENST00000329198.4:c.875T>C	ENSP00000327758.4:p.Phe292Ser
NM_001166175.1:c.*828T>C	NP_001159647.1:n.*828T>C
NM_001166176.1:c.*674T>C	NP_001159648.1:n.*674T>C
NM_004387.3:c.875T>C	NP_004378.1:p.Phe292Ser
NM_004387.4:c.875T>C MANE Select	NP_004378.1:p.Phe292Ser
NM_001166175.2:c.*828T>C	NP_001159647.1:n.*828T>C
NM_001166176.2:c.*674T>C	NP_001159648.1:n.*674T>C