Canonical Allele Identifier: CA2653126252
Gene: SLC12A5 HGNC NCBI

Linked Data

gnomAD v4: 20-46056103-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46056103G>C , CM000682.2:g.46056103G>C GRCh38
NC_000020.10:g.44684742G>C , CM000682.1:g.44684742G>C GRCh37
NC_000020.9:g.44118149G>C NCBI36
NG_046341.1:g.39414G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000243964.7:c.2788-47G>C MANE Select ENSP00000243964.4:n.2788-47G>C
ENST00000243964.6:c.2788-47G>C ENSP00000243964.3:n.2788-47G>C
ENST00000454036.6:c.2857-47G>C ENSP00000387694.1:n.2857-47G>C
ENST00000616201.4:c.1298-2553G>C ENSP00000484585.1:n.1298-2553G>C
ENST00000616202.4:c.613-2378G>C ENSP00000478369.1:n.613-2378G>C
ENST00000616933.4:c.*2106-47G>C ENSP00000477569.1:n.*2106-47G>C
ENST00000626937.2:c.510-3496G>C ENSP00000485953.1:n.510-3496G>C
ENST00000628413.1:n.257G>C
NM_001134771.1:c.2857-47G>C NP_001128243.1:n.2857-47G>C
NM_020708.4:c.2788-47G>C NP_065759.1:n.2788-47G>C
XM_017027981.1:c.2857-47G>C XP_016883470.1:n.2857-47G>C
NM_001134771.2:c.2857-47G>C NP_001128243.1:n.2857-47G>C
NM_020708.5:c.2788-47G>C MANE Select NP_065759.1:n.2788-47G>C
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