Canonical Allele Identifier: CA1084496831

Gene: NKX2-5

Linked Data

• dbSNP Id: rs1761448119
• gnomAD v3: 5-173235096-A-G
• gnomAD v4: 5-173235096-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173235096A>G , CM000667.2:g.173235096A>G	GRCh38
NC_000005.9:g.172662099A>G , CM000667.1:g.172662099A>G	GRCh37
NC_000005.8:g.172594705A>G	NCBI36
NG_013340.1:g.5217T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.-13T>C MANE Select	ENSP00000327758.4:n.-13T>C
ENST00000329198.4:c.-13T>C	ENSP00000327758.4:n.-13T>C
ENST00000424406.2:c.-13T>C	ENSP00000395378.2:n.-13T>C
ENST00000517440.1:c.-13T>C	ENSP00000429905.1:n.-13T>C
ENST00000521848.1:c.-13T>C	ENSP00000427906.1:n.-13T>C
NM_001166175.1:c.-13T>C	NP_001159647.1:n.-13T>C
NM_001166176.1:c.-13T>C	NP_001159648.1:n.-13T>C
NM_004387.3:c.-13T>C	NP_004378.1:n.-13T>C
XM_017009071.2:c.-13T>C	XP_016864560.1:n.-13T>C
NM_004387.4:c.-13T>C MANE Select	NP_004378.1:n.-13T>C
NM_001166175.2:c.-13T>C	NP_001159647.1:n.-13T>C
NM_001166176.2:c.-13T>C	NP_001159648.1:n.-13T>C