Canonical Allele Identifier: CA391078927
Gene: AMN HGNC NCBI

Linked Data

gnomAD v4: 14-102922701-G-A
MyVariant Identifiers: chr14:g.103389038G>A (hg19) chr14:g.102922701G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922701G>A , CM000676.2:g.102922701G>A GRCh38
NC_000014.8:g.103389038G>A , CM000676.1:g.103389038G>A GRCh37
NC_000014.7:g.102458791G>A NCBI36
NG_008276.2:g.5046G>A , LRG_642:g.5046G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.13G>A MANE Select ENSP00000299155.6:p.Gly5Ser
ENST00000299155.9:c.13G>A ENSP00000299155.5:p.Gly5Ser
NM_030943.3:c.13G>A , LRG_642t1:c.13G>A NP_112205.2:p.Gly5Ser
XM_011537202.1:c.-169G>A XP_011535504.1:n.-169G>A
XM_011537202.3:c.-169G>A XP_011535504.1:n.-169G>A
XM_024449714.1:c.109G>A XP_024305482.1:p.Gly37Ser
NM_030943.4:c.13G>A MANE Select NP_112205.2:p.Gly5Ser
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