Canonical Allele Identifier: CA362163493

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 1495566
• ClinVar RCV Id: RCV001991449
• dbSNP Id: rs2113906300
• MyVariant Identifiers: chr5:g.172661887G>A (hg19) ; chr5:g.173234884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234884G>A , CM000667.2:g.173234884G>A	GRCh38
NC_000005.9:g.172661887G>A , CM000667.1:g.172661887G>A	GRCh37
NC_000005.8:g.172594493G>A	NCBI36
NG_013340.1:g.5429C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.200C>T MANE Select	ENSP00000327758.4:p.Pro67Leu
ENST00000329198.4:c.200C>T	ENSP00000327758.4:p.Pro67Leu
ENST00000424406.2:c.200C>T	ENSP00000395378.2:p.Pro67Leu
ENST00000517440.1:c.200C>T	ENSP00000429905.1:p.Pro67Leu
ENST00000521848.1:c.200C>T	ENSP00000427906.1:p.Pro67Leu
NM_001166175.1:c.200C>T	NP_001159647.1:p.Pro67Leu
NM_001166176.1:c.200C>T	NP_001159648.1:p.Pro67Leu
NM_004387.3:c.200C>T	NP_004378.1:p.Pro67Leu
XM_017009071.2:c.200C>T	XP_016864560.1:p.Pro67Leu
NM_004387.4:c.200C>T MANE Select	NP_004378.1:p.Pro67Leu
NM_001166175.2:c.200C>T	NP_001159647.1:p.Pro67Leu
NM_001166176.2:c.200C>T	NP_001159648.1:p.Pro67Leu