Canonical Allele Identifier: CA399777952
Gene: SLC4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.42326568T>G (hg19) chr17:g.44249200T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44249200T>G , CM000679.2:g.44249200T>G GRCh38
NC_000017.10:g.42326568T>G , CM000679.1:g.42326568T>G GRCh37
NC_000017.9:g.39682094T>G NCBI36
NG_007498.1:g.23935A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.*1258A>C MANE Select ENSP00000262418.6:n.*1258A>C
ENST00000262418.10:c.*1258A>C ENSP00000262418.6:n.*1258A>C
ENST00000399246.3:c.*1258A>C ENSP00000382190.3:n.*1258A>C
ENST00000631130.1:c.5A>C ENSP00000486787.1:p.Glu2Ala
NM_000342.3:c.*1258A>C NP_000333.1:n.*1258A>C
XM_005257593.3:c.*1258A>C XP_005257650.1:n.*1258A>C
XM_011525129.1:c.*1258A>C XP_011523431.1:n.*1258A>C
NM_000342.4:c.*1258A>C MANE Select NP_000333.1:n.*1258A>C
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