Canonical Allele Identifier: CA367069680
Gene: HOXA13 HGNC NCBI

Linked Data

dbSNP Id: rs2115471168
gnomAD v4: 7-27198269-C-G
MyVariant Identifiers: chr7:g.27237888C>G (hg19) chr7:g.27198269C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27198269C>G , CM000669.2:g.27198269C>G GRCh38
NC_000007.13:g.27237888C>G , CM000669.1:g.27237888C>G GRCh37
NC_000007.12:g.27204413C>G NCBI36
NG_008181.1:g.6838G>C
NG_008181.2:g.6838G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000649031.1:c.1096G>C MANE Select ENSP00000497112.1:p.Val366Leu
ENST00000222753.5:c.1096G>C ENSP00000222753.4:p.Val366Leu
NM_000522.4:c.1096G>C NP_000513.2:p.Val366Leu
XM_011515344.1:c.1096G>C XP_011513646.1:p.Val366Leu
NM_000522.5:c.1096G>C MANE Select NP_000513.2:p.Val366Leu
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