Canonical Allele Identifier: CA270748608
Gene: RAB27A HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.55289044T>C
GRCh37 chr15:g.55581242T>C
gnomAD v2:
15:55581242 T / C
gnomAD v3:
15:55289044 T / C
gnomAD v4:
chr15-55289044-T-C
Joint Max Group AF 0.06551959 (NFE)
Genomes Max Group AF 0.06552102 (NFE)
Exomes Max Group AF 0.02840193 (NFE)
dbSNP:
11857829
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55289044T>C , CM000677.2:g.55289044T>C GRCh38
NC_000015.9:g.55581242T>C , CM000677.1:g.55581242T>C GRCh37
NC_000015.8:g.53368534T>C NCBI36
NG_009103.1:g.5760A>G , LRG_96:g.5760A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000565776.2:n.76+672A>G
ENST00000697642.1:c.-23+672A>G ENSP00000513368.1:n.-23+672A>G
ENST00000697643.1:c.-232+672A>G ENSP00000513369.1:n.-232+672A>G
ENST00000336787.6:c.-143+672A>G MANE Select ENSP00000337761.1:n.-143+672A>G
ENST00000336787.5:c.-143+672A>G ENSP00000337761.1:n.-143+672A>G
ENST00000563262.5:c.-112+24995A>G ENSP00000457595.1:n.-112+24995A>G
ENST00000565776.1:n.76+672A>G
ENST00000567639.1:n.98+672A>G
NM_183235.2:c.-143+672A>G NP_899058.1:n.-143+672A>G
XM_005254576.3:c.-23+672A>G XP_005254633.1:n.-23+672A>G
XM_011521852.1:c.-359+672A>G XP_011520154.1:n.-359+672A>G
XM_011521853.1:c.-462+672A>G XP_011520155.1:n.-462+672A>G
XM_011521854.1:c.-232+672A>G XP_011520156.1:n.-232+672A>G
XM_011521855.1:c.-246+672A>G XP_011520157.1:n.-246+672A>G
XM_005254576.5:c.-23+672A>G XP_005254633.1:n.-23+672A>G
XM_011521855.3:c.-246+672A>G XP_011520157.1:n.-246+672A>G
XM_024450009.1:c.-462+672A>G XP_024305777.1:n.-462+672A>G
NM_183235.3:c.-143+672A>G MANE Select NP_899058.1:n.-143+672A>G
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