Canonical Allele Identifier: CA2636826512

Gene: SLC46A1

Linked Data

• gnomAD v4: 17-28405745-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28405745T>C , CM000679.2:g.28405745T>C	GRCh38
NC_000017.10:g.26732763T>C , CM000679.1:g.26732763T>C	GRCh37
NC_000017.9:g.23756890T>C	NCBI36
NG_013306.1:g.5466A>G , LRG_183:g.5466A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612814.5:c.228+142A>G MANE Select	ENSP00000480703.1:n.228+142A>G
ENST00000578217.1:n.3A>G
ENST00000581516.1:c.6+142A>G	ENSP00000462942.1:n.6+142A>G
ENST00000582590.1:n.282+142A>G
ENST00000584426.1:c.-36-277A>G	ENSP00000467416.1:n.-36-277A>G
ENST00000584995.5:c.6+142A>G	ENSP00000464190.1:n.6+142A>G
ENST00000612814.4:c.228+142A>G	ENSP00000480703.1:n.228+142A>G
ENST00000618626.1:c.228+142A>G	ENSP00000483652.1:n.228+142A>G
NM_001242366.2:c.228+142A>G	NP_001229295.1:n.228+142A>G
NM_080669.5:c.228+142A>G	NP_542400.2:n.228+142A>G
XM_005277786.2:c.228+142A>G	XP_005277843.1:n.228+142A>G
XR_934643.1:n.89+294T>C
XM_005277786.3:c.228+142A>G	XP_005277843.1:n.228+142A>G
XM_017024110.1:c.6+142A>G	XP_016879599.1:n.6+142A>G
NM_080669.6:c.228+142A>G MANE Select	NP_542400.2:n.228+142A>G
NM_001242366.3:c.228+142A>G	NP_001229295.1:n.228+142A>G