Canonical Allele Identifier: CA152421787

Gene: UNCX

Linked Data

• dbSNP Id: rs556126461
• gnomAD v2: 7-1273840-T-C
• gnomAD v3: 7-1234204-T-C
• gnomAD v4: 7-1234204-T-C
• MyVariant Identifiers: chr7:g.1273840T>C (hg19) ; chr7:g.1234204T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.1234204T>C , CM000669.2:g.1234204T>C	GRCh38
NC_000007.13:g.1273840T>C , CM000669.1:g.1273840T>C	GRCh37
NC_000007.12:g.1240366T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000316333.9:c.450+509T>C MANE Select	ENSP00000314480.8:n.450+509T>C
ENST00000316333.8:c.450+509T>C	ENSP00000314480.8:n.450+509T>C
NM_001080461.1:c.450+509T>C	NP_001073930.1:n.450+509T>C
NM_001080461.2:c.450+509T>C	NP_001073930.1:n.450+509T>C
NM_001080461.3:c.450+509T>C MANE Select	NP_001073930.1:n.450+509T>C