Canonical Allele Identifier: CA723843211
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs1036631848
MyVariant Identifiers: chr16:g.74747396T>G (hg19) chr16:g.74713498T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713498T>G , CM000678.2:g.74713498T>G GRCh38
NC_000016.9:g.74747396T>G , CM000678.1:g.74747396T>G GRCh37
NC_000016.8:g.73304897T>G NCBI36
NG_017070.1:g.66334A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*692A>C MANE Select ENSP00000219368.3:n.*692A>C
ENST00000219368.7:c.*692A>C ENSP00000219368.3:n.*692A>C
ENST00000562145.1:n.1532A>C
NM_024306.4:c.*692A>C NP_077282.3:n.*692A>C
XM_011523319.1:c.*692A>C XP_011521621.1:n.*692A>C
XM_011523319.2:c.*692A>C XP_011521621.1:n.*692A>C
NM_024306.5:c.*692A>C MANE Select NP_077282.3:n.*692A>C
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