Canonical Allele Identifier: CA283756826
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs1014982032
gnomAD v4: 16-74713378-A-G
MyVariant Identifiers: chr16:g.74747276A>G (hg19) chr16:g.74713378A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713378A>G , CM000678.2:g.74713378A>G GRCh38
NC_000016.9:g.74747276A>G , CM000678.1:g.74747276A>G GRCh37
NC_000016.8:g.73304777A>G NCBI36
NG_017070.1:g.66454T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*812T>C MANE Select ENSP00000219368.3:n.*812T>C
ENST00000219368.7:c.*812T>C ENSP00000219368.3:n.*812T>C
ENST00000562145.1:n.1652T>C
NM_024306.4:c.*812T>C NP_077282.3:n.*812T>C
XM_011523319.1:c.*812T>C XP_011521621.1:n.*812T>C
XM_011523319.2:c.*812T>C XP_011521621.1:n.*812T>C
NM_024306.5:c.*812T>C MANE Select NP_077282.3:n.*812T>C
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