Canonical Allele Identifier: CA3805636
Gene: GUCA1B HGNC NCBI

Linked Data

ClinVar Variation Id: 356736
ClinVar RCV Id: RCV000397401 RCV001510501 RCV001529912 RCV001702631 RCV003888841
dbSNP Id: rs3749921
ExAC: 6:42162388 A / G
gnomAD v2: 6-42162388-A-G
gnomAD v3: 6-42194650-A-G
gnomAD v4: 6-42194650-A-G
MyVariant Identifiers: chr6:g.42162388A>G (hg19) chr6:g.42194650A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42194650A>G , CM000668.2:g.42194650A>G GRCh38
NC_000006.11:g.42162388A>G , CM000668.1:g.42162388A>G GRCh37
NC_000006.10:g.42270366A>G NCBI36
NG_016216.1:g.5307T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000230361.4:c.171T>C MANE Select ENSP00000230361.3:p.Tyr57=
ENST00000230361.3:c.171T>C ENSP00000230361.3:p.Tyr57=
NM_002098.5:c.171T>C NP_002089.4:p.Tyr57=
XM_011514540.1:c.4-5919T>C XP_011512842.1:n.4-5919T>C
NM_002098.6:c.171T>C MANE Select NP_002089.4:p.Tyr57=
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