Canonical Allele Identifier: CA1467147858
Community Standard Title: NM_001098484.3(SLC4A4):c.253+5773C=
Gene: SLC4A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71261172C= , CM000666.2:g.71261172C= GRCh38
NC_000004.11:g.72126889C= , CM000666.1:g.72126889C= GRCh37
NC_000004.10:g.72345753C= NCBI36
NG_012653.1:g.78887C=

Transcript Alleles

HGVS Amino-acid Change
NM_001098484.3:c.253+5773C= MANE Select NP_001091954.1:n.253+5773C=
ENST00000264485.11:c.253+5773C= MANE Select ENSP00000264485.5:n.253+5773C=
NM_001098484.2:c.253+5773C= NP_001091954.1:n.253+5773C=
NM_001134742.1:c.253+5773C= NP_001128214.1:n.253+5773C=
NM_001134742.2:c.253+5773C= NP_001128214.1:n.253+5773C=
ENST00000264485.9:c.253+5773C= ENSP00000264485.5:n.253+5773C=
ENST00000351898.10:c.253+5773C= ENSP00000307349.7:n.253+5773C=
ENST00000425175.5:c.253+5773C= ENSP00000393557.1:n.253+5773C=
ENST00000514331.1:n.182+5773C=
ENST00000638464.1:c.346+5773C= ENSP00000492496.1:n.346+5773C=
ENST00000639096.1:c.358+5773C= ENSP00000491107.1:n.358+5773C=
ENST00000649996.1:c.253+5773C= ENSP00000497468.1:n.253+5773C=
ENST00000698522.1:c.253+5773C= ENSP00000513771.1:n.253+5773C=
XM_024454267.1:c.346+5773C= XP_024310035.1:n.346+5773C=
XM_024454268.1:c.268+5773C= XP_024310036.1:n.268+5773C=
XM_024454269.1:c.268+5773C= XP_024310037.1:n.268+5773C=
XM_024454270.1:c.253+5773C= XP_024310038.1:n.253+5773C=
XM_024454271.1:c.253+5773C= XP_024310039.1:n.253+5773C=
XM_024454272.1:c.253+5773C= XP_024310040.1:n.253+5773C=