Canonical Allele Identifier: CA1118437753
Gene: MAL2 HGNC NCBI

Linked Data

dbSNP Id: rs1731544351
gnomAD v3: 8-119212473-T-C
gnomAD v4: 8-119212473-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.119212473T>C , CM000670.2:g.119212473T>C GRCh38
NC_000008.10:g.120224713T>C , CM000670.1:g.120224713T>C GRCh37
NC_000008.9:g.120293894T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000614891.5:c.132+3869T>C MANE Select ENSP00000479708.1:n.132+3869T>C
ENST00000522112.6:c.-72-9114T>C ENSP00000483044.1:n.-72-9114T>C
ENST00000531508.1:c.-73+3273T>C ENSP00000484544.1:n.-73+3273T>C
ENST00000534619.5:c.-73+4380T>C ENSP00000482729.1:n.-73+4380T>C
ENST00000614891.4:c.132+3869T>C ENSP00000479708.1:n.132+3869T>C
NM_052886.2:c.132+3869T>C NP_443118.1:n.132+3869T>C
XM_011516807.1:c.132+3869T>C XP_011515109.1:n.132+3869T>C
XM_011516807.2:c.132+3869T>C XP_011515109.1:n.132+3869T>C
NM_052886.3:c.132+3869T>C MANE Select NP_443118.1:n.132+3869T>C
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