Canonical Allele Identifier: CA396768425
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74774659-G-A
MyVariant Identifiers: chr16:g.74808557G>A (hg19) chr16:g.74774659G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774659G>A , CM000678.2:g.74774659G>A GRCh38
NC_000016.9:g.74808557G>A , CM000678.1:g.74808557G>A GRCh37
NC_000016.8:g.73366058G>A NCBI36
NG_017070.1:g.5173C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.97C>T MANE Select ENSP00000219368.3:p.Leu33Phe
ENST00000219368.7:c.97C>T ENSP00000219368.3:p.Leu33Phe
ENST00000567683.5:c.97C>T ENSP00000455126.1:p.Leu33Phe
NM_024306.4:c.97C>T NP_077282.3:p.Leu33Phe
XM_011523317.1:c.97C>T XP_011521619.1:p.Leu33Phe
XM_011523318.1:c.97C>T XP_011521620.1:p.Leu33Phe
XM_011523317.3:c.97C>T XP_011521619.1:p.Leu33Phe
NM_024306.5:c.97C>T MANE Select NP_077282.3:p.Leu33Phe
Search 100 bp 5'
Search 100 bp 3'