Canonical Allele Identifier: CA2634286561
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74713504-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713504A>G , CM000678.2:g.74713504A>G GRCh38
NC_000016.9:g.74747402A>G , CM000678.1:g.74747402A>G GRCh37
NC_000016.8:g.73304903A>G NCBI36
NG_017070.1:g.66328T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*686T>C MANE Select ENSP00000219368.3:n.*686T>C
ENST00000219368.7:c.*686T>C ENSP00000219368.3:n.*686T>C
ENST00000562145.1:n.1526T>C
NM_024306.4:c.*686T>C NP_077282.3:n.*686T>C
XM_011523319.1:c.*686T>C XP_011521621.1:n.*686T>C
XM_011523319.2:c.*686T>C XP_011521621.1:n.*686T>C
NM_024306.5:c.*686T>C MANE Select NP_077282.3:n.*686T>C
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