Canonical Allele Identifier: CA1290821970
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs2077505340
gnomAD v4: 2-135788030-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135788030G>C , CM000664.2:g.135788030G>C GRCh38
NC_000002.11:g.136545600G>C , CM000664.1:g.136545600G>C GRCh37
NC_000002.10:g.136262070G>C NCBI36
NG_008104.2:g.72140C>G , LRG_338:g.72140C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.*294C>G MANE Select ENSP00000264162.2:n.*294C>G
ENST00000264162.6:c.*294C>G ENSP00000264162.2:n.*294C>G
NM_002299.2:c.*294C>G , LRG_338t1:c.*294C>G NP_002290.2:n.*294C>G
NM_002299.3:c.*294C>G NP_002290.2:n.*294C>G
NM_002299.4:c.*294C>G MANE Select NP_002290.2:n.*294C>G
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