Canonical Allele Identifier: CA2649458470
Gene: LAMC1 HGNC NCBI

Linked Data

gnomAD v4: 1-183127506-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183127506T>C , CM000663.2:g.183127506T>C GRCh38
NC_000001.10:g.183096641T>C , CM000663.1:g.183096641T>C GRCh37
NC_000001.9:g.181363264T>C NCBI36
NG_011463.1:g.109047T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258341.5:c.3123+102T>C MANE Select ENSP00000258341.3:n.3123+102T>C
ENST00000258341.4:c.3123+102T>C ENSP00000258341.3:n.3123+102T>C
ENST00000466964.1:n.685+102T>C
NM_002293.3:c.3123+102T>C NP_002284.3:n.3123+102T>C
NM_002293.4:c.3123+102T>C MANE Select NP_002284.3:n.3123+102T>C
Search 100 bp 5'
Search 100 bp 3'